BMPRIB

(redirected from OTTHUMP00000161622)

BMPRIB

A gene on chromosome 4q22-q24 that encodes a member of the type-I bone morphogenetic protein (BMP)-receptor family of transmembrane serine/threonine kinases, which binds BMPs and plays a central role in endochondral bone formation and embryogenesis. Type-I receptors require their respective type-II receptors for ligand binding. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate then bind and activate SMAD transcriptional regulators.

Molecular pathology
BMPRIB mutations are associated with primary pulmonary hypertension and brachydactyly type 2A.