DISEASES

Disease-gene associations mined from literature

Literature associating BMPR1B and brachydactyly type A2

BMPR1B [ENSP00000401907]

Bone morphogenetic protein receptor type-1B; 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 BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.

Synonyms:  BMPR1B,  BMPR1Bp,  hBMPR1B,  D6RGW8,  O00238 ...

Linkouts:  STRING  Pharos  UniProt