DISEASES

Disease-gene associations mined from literature

Literature associating BMPR1A and hereditary mixed polyposis syndrome

BMPR1A [ENSP00000361107]

Bone morphogenetic protein receptor, type IA; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Synonyms:  BMPR1A,  BMPR1Ap,  hBMPR1A,  BMPR1A-001,  BMPR1A-003 ...

Linkouts:  STRING  Pharos  UniProt