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Definition
 
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Alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
allele definition: one of a series of possible alternative forms of a given gene, differing in DNA sequence, and affecting the functioning of a single product.
Allele definition: Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in DNA sequence and governing the same biochemical and developmental process.
Gene Frequency definition: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
gene frequency definition: the relative occurrence of a specific allele at a given locus in a population, usually expressed in percent.
Population Frequency definition: A description of the relative rate of occurrence of specific alleles, traits, or other factors within a population of organisms.
ADRB2 wt Allele definition: Human ADRB2 wild-type allele is located within 5q31-q32 and is approximately 2 kb in length. This allele, which encodes beta-2 adrenergic receptor protein, plays a role in the regulation of both calcium channel complex regulation and adenylyl cyclase activity. A variety of polymorphic forms of the gene are associated with nocturnal asthma, obesity and type 2 diabetes. These variants are frequently generated by point mutations and downregulation of the gene.
ACVRL1 wt Allele definition: Human ACVRL1 wild-type allele is located within 12q11-q14 and is approximately 14 kb in length. This allele, which encodes serine/threonine-protein kinase receptor R3 protein, is involved in receptor signal transduction. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2, which is also also known as Rendu-Osler-Weber syndrome 2.
ABCC1 wt Allele definition: Human ABCC1 wild-type allele is located in the vicinity of 16p13.1 and is approximately 193 kb in length. This allele, which encodes multidrug resistance-associated protein 1, is involved in multispecific organic anion transport.
ADORA3 wt Allele definition: Human ADORA3 wild-type allele is located in the vicinity of 1p13.2 and is approximately 81 kb in length. This allele, which encodes adenosine A3 receptor protein, is involved in the prevention of ischemic injury to cardiac ventricular cells and may play a role in reproduction.
ABCB6 wt Allele definition: Human ABCB6 wild-type allele is located in the vicinity of 2q36 and is approximately 9 kb in length. This allele, which encodes mitochondrial ATP-binding cassette sub-family B member 6 protein, may play a role in the modulation of both synthesis and hemostasis of heme and porphyrins in mitochondria.
ABCG2 wt Allele definition: Human ABCG2 wild-type allele is located within 4q22 and is approximately 67 kb in length. This allele, which encodes ATP-binding cassette sub-family G member 2 protein, plays a role in transmembrane transport and transcriptional regulation. The allele is thought to play a role in cellular defense and aberrations are thought to play a role in tumor multidrug resistance.
ABL1 wt Allele definition: Human ABL1 wild-type allele is located in the vicinity of 9q34.1 and is approximately 173 kb in length. This allele, which encodes proto-oncogene tyrosine-protein kinase ABL1 protein, plays a role in cell cycle regulation and ribosomal biogenesis. The ABL1 gene is translocated in chronic myelogeneous leukemia, acute lymphoblastic leukemia and, in rare cases, acute myelogenous leukemia.
ACTG2 wt Allele definition: Human ACTG2 wild-type allele is located in the vicinity of 2p13.1 and is approximately 27 kb in length. This allele, which encodes actin, gamma-enteric smooth muscle protein, is involved in the mediation of cellular motility.
ACVR1A wt Allele definition: Human ACVR1 wild-type allele is located within 2q23-q24 and is approximately 139 kb in length. This allele, which encodes activin receptor type-1 protein, is involved in transcriptional regulation and signal transduction.
ACVR1B wt Allele definition: Human ACVR1B wild-type allele is located within 12q13 and is approximately 45 kb in length. This allele, which encodes activin receptor type 1B protein, plays a role in signal transduction.
ACVR2A wt Allele definition: Human ACVR2A wild-type allele is located in the vicinity of 2q22.3 and is approximately 83 kb in length. This allele, which encodes activin receptor type 2A protein, is involved in the mediation of ligand binding interactions pertaining to TGF-beta signal transduction.
ACVR2B wt Allele definition: Human ACVR2B wild-type allele is located within 3p22 and is approximately 29 kb in length. This allele, which encodes activin receptor type 2B protein, plays a role in ligand binding interactions pertaining to TGF-beta signal transduction.
ADORA2B wt Allele definition: Human ADORA2B wild-type allele is located within 17p12-p11.2 and is approximately 31 kb in length. This allele, which encodes adenosine A2b receptor protein, plays a role in both the stimulation of adenylate cyclase activity in the presence of adenosine and axon elongation.
ADRA1A wt Allele definition: Human ADRA1A wild-type allele is located within 8p21-p11.2 and is approximately 117 kb in length. This allele, which encodes alpha-1A adrenergic receptor protein, is involved in the regulation of smooth muscle contraction, cellular growth and proliferation.
AFF4 wt Allele definition: Human AFF4 wild-type allele is located in the vicinity of 5q31 and is approximately 88 kb in length. This allele, which encodes AF4/FMR2 family member 4 protein, is involved in transcriptional regulation. A chromosomal aberration involving this gene and the MLL gene, insertion ins(5;11)(q31;q13q23), is associated with acute lymphoblastic leukemia.
ABCB1 wt Allele definition: Human ABCB1-C allele is the wild-type form of the human ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1) gene (ABC gene family), located at located at 7q21.1, which encodes multidrug resistance protein 1. Amplification of the ABCB1 gene is a major determinant in the development of multi-drug resistance which decreases the effectiveness of many chemotherapeutic agents used in cancer treatment.
ABCB1 wt Allele definition: Human ABCB1 wild-type allele is located in the vicinity of 7q21.1 and is approximately 210 kb in length. This allele, which encodes multidrug resistance protein 1, is involved in transmembrane transport. Amplification of the ABCB1 gene is a major determinant in the development of multi-drug resistance, which decreases the effectiveness of many chemotherapeutic agents used in cancer treatment.
AIM2 wt Allele definition: Human AIM2 is located in the vicinity of 1q22 and is approximately 40 kb in length. This gene, which encodes membrane-associated transporter protein, plays a role in cell cycle regulation and cellular proliferation.
AKR7A2 wt Allele definition: Human AKR7A2 wild-type allele is located within 1p35.1-p36.23 and is approximately 8 kb in length. This allele, which encodes aflatoxin B1 aldehyde reductase member 2 protein, plays a role in the detoxification of the dialdehyde protein-binding form of aflatoxin B1.
GTF2A1L wt Allele definition: Human GTF2A1L wild-type allele is located in the vicinity of 2p16.3 and is approximately 115 kb in length. This allele, which encodes TFIIA-alpha and beta-like factor protein, may be involved in gene transcription in germ cells.
ALK wt Allele definition: Human ALK wild-type allele is located within 2p23 and is approximately 729 kb in length. This allele, which encodes ALK tyrosine kinase receptor protein, plays a role in brain development and exerts its effects on specific neurons in the nervous system.
AGR2 wt Allele definition: Human AGR2 wild-type allele is located in the vicinity of 7p21.3 and is approximately 13 kb in length. This allele, which encodes anterior gradient protein 2 homolog protein, plays a role in the regulation of receptor adhesion and functioning. Overexpression of the AGR2 gene is associated with certain types of cancer such as breast and prostate cancer.
AKT1 wt Allele definition: Human AKT1 wild-type allele is located in the vicinity of 14q32.32 and is approximately 26 kb in length. This allele, which encodes RAC-alpha serine/threonine-protein kinase protein, plays a role in mediating the effects of various growth factors and is involved in the transduction of anti-apoptotic and proliferation signals in T-cells. Inherited defects in the AKT1 gene that result in deficiency of its protein product confer susceptibility to schizophrenia.
ADAM15 wt Allele definition: Human ADAM15 wild-type allele is located in the vicinity of 1q21.3 and is approximately 11 kb in length. This allele, which encodes ADAM15 protein, is involved in proteolysis that contributes to restructuring of the mesangial matrix.
ADAM11 wt Allele definition: Human ADAM11 wild-type allele is located in the vicinity of 17q21.3 and is approximately 21 kb in length. This allele, which encodes ADAM11 protein, plays a role in integrin binding. Expression of the ADAM 11 gene is disrupted in cancers such as breast and ovarian cancer due to gene rearrangements.
ADRBK2 wt Allele definition: Human ADRBK2 wild-type allele is located within 22q11 and is approximately 159 kb in length. This allele, which encodes beta-adrenergic receptor kinase 2 protein, is involved in the phosphorylation of the activated form of the beta-adrenergic and related G-protein-coupled receptors. This modification results in mediation of agonist-specific desensitization observed at high agonist concentrations. Certain allelic variants of the ADRBK2 gene are associated with susceptibility to bipolar disorder.
ADRBK1 wt Allele definition: Human ADRBK1 wild-type allele is located within 11q13 and is approximately 20 kb in length. This allele, which encodes beta-adrenergic receptor kinase 1 protein, plays a role in the phosphorylation of the activated form of the beta-adrenergic and related G-protein-coupled receptors. This modification results in mediation of agonist-specific desensitization observed at high agonist concentrations. Elevated ADRBK1 gene expression is associated with impaired cardiac function and heart failure.
ACPP wt Allele definition: Human ACPP wild-type allele is located within 3q21-q23 and is approximately 51 kb in length. This allele, which encodes prostatic acid phosphatase protein, plays a role in the hydrolysis of phosphate monoesters.
ABl1 wt Allele definition: Human ABI1 wild-type allele is located in the vicinity of 10p11.2 and is approximately 114 kb in length. This allele, which encodes abl interactor 1 protein, is involved in both cellular growth regulation and cytoskeletal organization.
AIM1 wt Allele definition: Human AIM1 wild-type allele is located in the vicinity of 5p13.3 and is approximately 40 kb in length. This allele, which encodes membrane-associated transporter protein, plays a role in melanocyte differentiation and is a candidate tumor suppressor gene.
ACSL1 wt Allele definition: Human ACSL1 wild-type allele is located within 4q34-q35 and is approximately 70 kb in length. This allele, which encodes long-chain-fatty-acid-CoA ligase 1 protein, plays a role in the activation of long-chain fatty acids for both lipid biosynthesis and fatty acid degradation via beta oxidation.
AKAP13 wt Allele definition: Human AKAP13 wild-type allele is located within 15q24-q25 and is approximately 515 kb in length. This allele, which encodes A-kinase anchor protein 13, is involved in both the regulation of the localization of protein kinase A and the stimulation of guanidine nucleotide exchange factors.
WAS wt Allele definition: Human WAS wild-type allele is located within Xp11.4-p11.21 and is approximately 8 kb in length. This allele, which encodes Wiskott-Aldrich syndrome protein, plays a role in actin cytoskeletal organization. Mutations in this gene are the cause of Wiskott-Aldrich syndrome an X-linked disease characterized by eczema, immune deficiencies and thrombocytopenia.
AKT2 wt Allele definition: Human AKT2 wild-type allele is located within 19q13.1-q13.2 and is approximately 53 kb in length. This allele, which encodes RAC-beta serine/threonine-protein kinase protein, is involved in mediation of cell survival and plays a putative role in the metabolic actions of insulin. AKT2 gene amplification is associated with certain cancers such as ovarian and pancreatic carcinomas. An allelic variant of AKT2 is associated with the development of diabetes mellitus type II.
ALDH1A2 wt Allele definition: Human ALDH1A2 wild-type allele is located in the vicinity of 15q22.1 and is approximately 113 kb in length. This allele, which encodes retinal dehydrogenase 2 protein, is involved in the biosynthesis of retinoic acid, a hormonal signaling molecule.
AKAP9 wt Allele definition: Human AKAP9 wild-type allele is located within 7q21-q22 and is approximately 170 kb in length. This allele, which encodes A-kinase anchor protein 9, is involved in the regulation of both glutamate receptor and potassium channel signaling pathways through the alteration of the cellular location of protein kinase A.
AGTR2 wt Allele definition: Human AGTR2 wild-type allele is located within Xq22-q23 and is approximately 4 kb in length. This allele, which encodes type-2 angiotensin II receptor protein, plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system, apoptosis and G-protein receptor coupled signal transduction.
AFF3 wt Allele definition: Human AFF3 wild-type allele is located within 2q11.2-q12 and is approximately 595 kb in length. This allele, which encodes AF4/FRM2 family member 3 protein, may play roles in both the activation of RNA polymerase II-directed transcription and the development of lymphoid tissues. Acute lymphoblastic leukemia is associated with rearrangement and fusion of this gene to the MLL gene.
ADORA2A wt Allele definition: Human ADORA2A wild-type allele is located in the vicinity of 22q11.23 and is approximately 15 kb in length. This allele, which encodes adenosine A2a receptor protein, is involved in the regulation of adenylyl cyclase.
ABL2 wt Allele definition: Human ABL2 wild-type allele is located within 1q24-q25 and is approximately 126 kb in length. This allele, which encodes tyrosine-protein kinase ABL2 protein, is involved in signal transduction. The ABL2 gene is translocated in acute myelogenous leukemia.
AFF1 wt Allele definition: Human AFF1 wild-type allele is located in the vicinity of 4q21 and is approximately 206 kb in length. This allele, which encodes AF4/FMR2 family member 1 protein, is involved in the modulation of transcription by RNA polymerase II. Several acute leukemias are associated with the translocation t(4;11)(q21;q23) of the gene and the MLL gene.
AGT wt Allele definition: Human AGT wild-type allele is located within 1q42-q43 and is approximately 12 kb in length. This allele, which encodes angiotensinogen protein, plays a role in the modulation of blood pressure. Mutations in the gene may increase the risk of essential hypertension, renal failure and preeclampsia.
AHR wt Allele definition: Human AHR wild-type allele is located in the vicinity of 7p15 and is approximately 48 kb in length. This allele, which encodes aryl hydrocarbon receptor protein, plays a role in both the mediation of the biochemical and toxic effects of halogenated aromatic hydrocarbons and the regulation of the cell cycle.
AKAP12 wt Allele definition: Human AKAP12 wild-type allele is located within 6q24-q25 and is approximately 116 kb in length. This allele, which encodes A-kinase anchor protein 12, plays a role in the modulation of the cellular localization of both protein kinase A and protein kinase C.
APRT wt Allele definition: Human APRT wild-type allele is located within 16q24 and is approximately 2 kb in length. This allele, which encodes adenine phosphoribosyltransferase protein, is involved in an AMP purine salvage reaction that recycles adenine into nucleic acids by formation of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. Defects in the APRT gene cause APRT deficiency, a disorder also known as 2,8-dihydroxyadenine urolithiasis.
ABCB1 2 Allele definition: Human ABCB1-T allele is a variant form of the human ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1) gene, located at 7q21.1, which encodes multidrug resistance protein 1. This allele exhibits a SNP (3435 C>T) in exon 26 that results in wobble. This alteration in DNA sequence decreases the in vivo catalytic activity of the protein encoded by the ABCB1-2 allele. Duodenal expression of multidrug resistance protein 1 is also significantly reduced in individuals that have a homozygous phenotype for this allele.
ABI2 wt Allele definition: Human ABI2 wild-type allele is located within 2q33 and is approximately 99 kb in length. This allele, which encodes Abl interactor 2 protein, is involved in signal transduction, nuclear processes, tumor suppression.
ACRBP wt Allele definition: Human ACRBP wild-type allele is located in the vicinity of 12p13.31 and is approximately 9 kb in length. This allele, which encodes acrosin-binding protein, plays a role in proacrosin packaging and condensation for the acrosin zymogen in the acrosomal matrix.
ADAM17 wt Allele definition: Human ADAM17 wild-type allele is located within 2p25 and is approximately 66 kb in length. This allele, which encodes ADAM17 protein, is involved in the cleavage of membrane-bound cell-surface proteins to release their mature soluble forms.
ADAMTS1 wt Allele definition: Human ADAMTS1 wild-type allele is located in the vicinity of 21q21.2 and is approximately 9 kb in length. This allele, which encodes ADAMTS-1 protein, plays a role in the inhibition of both cell proliferation and angiogenesis.
ADAMTS9 wt Allele definition: Human ADAMTS9 wild-type allele is located within 3p14.3-p14.2 and is approximately 172 kb in length. This allele, which encodes ADAMTS-9, is involved in the proteolytic cleavage of large aggregating proteoglycans.
ADA wt Allele definition: Human ADA wild-type allele is located within 20q12-q13.11 and is approximately 32 kb in length. This allele, which encodes adenosine deaminase protein, is involved in the hydrolysis of adenosine to inosine. Certain allelic variants of the ADA gene are associated with adenosine deaminase deficiency which, in some cases, causes autosomal recessive severe combined immunodeficiency.
ADCY9 wt Allele definition: Human ADCY9 wild-type allele is located in the vicinity of 16p13.3 and is approximately 154 kb in length. This allele, which encodes adenylate cyclase type 9 protein, plays a role in the formation of cyclic AMP from ATP.
ADORA1 wt Allele definition: Human ADORA1 wild-type allele is located in the vicinity of 1q32.1 and is approximately 77 kb in length. This allele, which encodes adenosine A1 receptor protein, plays a role in the regulation of G protein receptor signal transduction and affects several biological processes.
ADRA1B wt Allele definition: Human ADRA1B wild-type allele is located within 5q23-q32 and is approximately 56 kb in length. This allele, which encodes alpha-1B adrenergic receptor protein, plays a role in the regulation of cellular growth and proliferation.
ADRA2A wt Allele definition: Human ADRA2A wild-type allele is located within 10q24-q26 and is approximately 4 kb in length. This allele, which encodes alpha-2A adrenergic receptor protein, is involved in both the regulation of neurotransmitter release from sympathetic nerves and adrenergic neurons in the central nervous system.
ADRA2B wt Allele definition: Human ADRA2B wild-type allele is located within 2p13-q13 and is approximately 3 kb in length. This allele, which encodes alpha-2B adrenergic receptor protein, plays a role in the regulation of neurotransmitter release and translation.
ADRB1 wt Allele definition: Human ADRB1 wild-type allele is located within 10q24-q26 and is approximately 2 kb in length. This allele, which encodes beta-1 adrenergic receptor protein, is involved in the mediation of hormonal physiological effects from epinephrine and norepinephrine. Select polymorphisms of the gene have been shown to affect resting heart rate function and if dysregulated, can be involved in heart failure.
AFP wt Allele definition: Human AFP wild-type allele is located within 4q11-q13 and is approximately 20 kb in length. This allele, which encodes alpha-fetoprotein, plays a critical role in the fetal development.
AKT3 wt Allele definition: Human AKT3 wild-type allele is located within 1q43-q44 and is approximately 355 kb in length. This allele, which encodes RAC-gamma serine/threonine-protein kinase protein, plays a role in the regulation of cell signaling in response to insulin and growth factors. AKT3 gene amplification and overexpression are associated with progression of malignant melanoma.
ALCAM wt Allele definition: Human ALCAM wild-type allele is located in the vicinity of 3q13.1 and is approximately 210 kb in length. This allele, which encodes CD166 antigen protein, is involved in cellular adhesion interactions between T-cells, B-cells, thymocytes and thymic epithelial cells.
ALOX15 wt Allele definition: Human ALOX15 wild-type allele is located in the vicinity of 17p13.3 and is approximately 11 kb in length. This allele, which encodes arachidonate 15-lipoxygenase protein, plays a role in leukotriene biosynthesis. Decreased expression of the ALOX 15 gene is associated with several types of cancer including breast and colorectal cancer.
Allele_Associated_With_Disease definition: This is a specializing role which may be used to override Gene_Associated_With_Disease that has been asserted for the gene class. The role is used to assert a link between the specific allele and disease and is considered to have clinical relevance. The domain and range kind for this role are Gene_Kind and Findings_and_Disorders_Kind, respectively.
Allele_Ceases_Function_In_Pathway definition: This is a specializing role, which may be used to override (negate) the role Gene_is_Element_in_Pathway asserted at the gene class. This is used when an allele no longer functions in the specified pathway, due to a variation in the gene. The domain and range kind for this role are Gene_Kind and Pathway_Kind, respectively.
Allele_Has_Abnormality definition: This is a specializing role which may be used to override Gene_Has_Abnormality that has been asserted for the gene class. This role is used to establish a link between a specific allele and genetic or molecular abnormalities that have been observed in human cells and tissues associated with cancer or another disease of interest. The domain and range kind for this role are Gene_Kind and Molecular_Abnormality_Kind, respectively.
Allele_Has_Activity definition: This role asserts the observed level of activity associated with an allele in a given biological process, compared to the wild-type gene. The domain and range kind for this role are Gene_Kind and Properties_or_Attributes Kind, respectively.
Allele_In_Chromosomal_Location definition: This role is used for alleles whose location has changed from the wild-type gene chromosomal location. This role is used to assert a new location that differs from the wild-type gene chromosomal location. Chromosome number or chromosome arm specifies the location of allele and in such cases chromosome band becomes essentially meaningless. The domain and range kind for this role are Gene_Kind and Anatomy_Kind, respectively.
Allele_Is_Cancer_Related_Type definition: The role asserts a relationship between a gene/allele and its cancer-related gene type (e.g. oncogene, tumor suppressor gene). The role is used to tag oncogenes/TSGs/etc. Both the domain and range kind for this role are Gene_Kind.
Allele_Not_Associated_With_Abnormality definition: This is a specializing role that overrides the inherited role Gene_Has_Abnormality, retained at the Gene Class. This role is used to suppress Gene_Has_Abnormality inherited from Gene Class. It is used when the assertion on the gene class is not valid for the specific allele. The domain and range kind for this role are Gene_Kind and Molecular_Abnormality_Kind, respectively.
Allele_Not_Associated_With_Disease definition: This is a specializing role which may be used to override Gene_Associated_With_Disease that has been asserted for the gene class. The role is used when the assertion on the gene class is not valid for the specific allele. The domain and range kind for this role are Gene_Kind and Findings_and_Disorders_Kind, respectively.
HTR2A 1 Allele definition: HTR2A-C Allele is a variant form of 20-kb 3-exon human HTR2A Gene (GPCR1/5HT2 Family), which encodes Serotonin 5-HT-2A Receptor, a conserved integral membrane 5-HT/serotonin receptor protein involved in tracheal smooth muscle contraction, bronchoconstriction, and control of aldosterone production by association with G proteins that activate a PI-calcium second messenger system. 5-HT is a biogenic hormone that affects specific receptors as a neurotransmitter, hormone, or mitogen. HTR2A contains several polymorphic sites. Different alleles differ in the concentration of RNA and protein product of 5HTR2A. HTR2A-C Allele contains a single-nucleotide polymorphism (102 T>C) in an intron and is expressed at a lower level than the 102 C>T allele.
HTR2A 2 Allele definition: HTR2A-T Allele is a variant form of 20-kb 3-exon human HTR2A Gene (GPCR1/5HT2 Family), which encodes Serotonin 5-HT-2A Receptor, a conserved integral membrane 5-HT/serotonin receptor protein involved in tracheal smooth muscle contraction, bronchoconstriction, and control of aldosterone production by association with G proteins that activate a PI-calcium second messenger system. 5-HT is a biogenic hormone that affects specific receptors as a neurotransmitter, hormone, or mitogen. HTR2A contains several polymorphic sites. Different alleles differ in the concentration of RNA and protein product of 5HTR2A. HTR2A-T Allele contains a single-nucleotide polymorphism (102 C>T) in an intron and is expressed at a higher level than the 102 T>C allele.
TPMT*2 Allele definition: Human TPMT*2 allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, a variant form of the TPMT wild-type allele, encodes thiopurine S-methyltransferase protein. TPMT*2 allele exhibits a clinically-relevant SNP (c.393G>C) that results in an A80P coding change. This alteration in protein sequence severely decreases the enzymatic activity of the protein encoded by this allelic variant.
TPMT*3A Allele definition: Human TPMT*3A allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, a variant form of the TPMT wild-type allele, encodes thiopurine S-methyltransferase protein. TPMT*3A allele exhibits two clinically-relevant SNPs (c.615G>C and c.874A>G) in that results in coding changes (A154T and Y240C). Together, these alterations abolish the enzymatic activity of the protein encoded by this allelic variant.
ABCB5 wt Allele definition: Human ABCB5 wild-type allele is located in the vicinity of 7p15.3 and is approximately 108 kb in length. This allele, which encodes ATP-binding cassette sub-family B member 5 protein, is involved in the mediation of the transport of small molecules across membranes. Expression of the gene is linked to drug resistance for a subset of melanomas.
ALOX5 wt Allele definition: Human ALOX5 wild-type allele is located in the vicinity of 10q11.2 and is approximately 72 kb in length. This allele, which encodes arachidonate 5-lipoxygenase protein, is involved in the regulation of leukotriene signaling. Mutations in the gene, which affect the enzymatic activity of the gene product, play a role in asthma, atherosclerosis and several cancers.
ADD3 wt Allele definition: Human ADD3 wild-type allele is located within 10q24.2-q24.3 and is approximately 130 kb in length. This allele, which encodes gamma-adducin protein, is involved in the modulation of actin-spectrin network assembly. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.
ALX4 wt Allele definition: Human ALX4 wild-type allele is located in the vicinity of 11p11.2 and is approximately 50 kb in length. This allele, which encodes homeobox protein aristaless-like 4, plays a role in transcriptional regulation. Mutation of the gene is associated with parietal foramina 2.
 
 
frFrench
allèle definition: Une des formes alternatives d'un même gène, occupant une place donnée sur un chromosome.