Overview:

BMPR1A (also known as bone morphogenetic protein receptor 1A) is a member of the transmembrane serine/threonine kinase family that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. BMPR1A act as a minor susceptibility gene for PTEN-mutation-negative Cowden syndrome. BMPR1A regulates the PTEN protein levels by decreasing PTEN's association with the degradative pathway (1). BMPR1A trafficking plays a significant role in FOP pathogenesis and is also involved in human T-cell differentiation (2).

Gene Aliases:

ALK3; BMPR1A; 10q23del; ACVRLK3; CD292; SKR5

Genbank Number:

NM_004329

References:

1. Waite, K. A. et.al: BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Hum. Molec. Genet. 12: 679-684, 2003.

2. Cejalvo, T. et.al: Bone morphogenetic protein-2/4 signalling pathway components are expressed in the human thymus and inhibit early T-cell development. Immunology 121: 94-104, 2007