Entrez gene ID | | 658 |
Official gene symbol | | BMPR1B |
Full name | | bone morphogenetic protein receptor, type IB |
Aliases | | ,ALK-6,ALK6,CDw293, |
Gene summary | | This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 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. Mutations in this gene have been associated with primary pulmonary hypertension. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q22-q24 |
Gene position | | 95679128 - 96079601 Map Viewer |
Gene orientation | | plus |
Gene size | | 400474 bp |
Gene sequence |
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OMIM ID | | 603248 |
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