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Bone Morphogenetic Protein Receptor, Type IA definition: The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Germline mutations in BMPR1A cause a subset of juvenile polyposis syndrome and Cowden syndrome. (From LocusLink)
BMPR1A Gene definition: This gene plays a role in the bone morphogenetic protein signaling pathway.
BMPR1A wt Allele definition: Human BMPR1A wild-type allele is located in the vicinity of 10q22.3 and is approximately 169 kb in length. This allele, which encodes bone morphogenetic protein receptor type IA protein, is involved in signal transduction pertaining to bone morphogenesis. Germline mutations in the gene cause a subset of juvenile polyposis syndrome and Cowden syndrome.
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