BMPRIA

BMPRIA

A gene on chromosome 10q22.3 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
BMPRIA mutations are associated with primary pulmonary hypertension and brachydactyly type 2A.
References in periodicals archive ?
Mochida et al., "Wnt inhibitors Dkk1 and Sost are downstream targets of BMP signaling through the type IA receptor (BMPRIA) in osteoblasts," Journal ofBone and Mineral Research, vol.
BMP Receptor (BMPRIa and BMPRII) Expression Levels Were Upregulated with Hypoxia and I/R.
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high density single nucleotide polymorphism (SNP) SCAN and identification of BMPRIA loss of function.
BMP4 and BMP type I receptor (BMPRIA) are overexpressed in coronal phase of a rat molar.