DISEASES

Disease-gene associations mined from literature

Literature associating BMPR1B and brachydactyly

BMPR1B [ENSP00000401907]

Bone morphogenetic protein receptor, type IB; 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; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Synonyms:  BMPR1B,  BMPR1Bp,  hBMPR1B,  D6RAW8,  D6RGW8 ...

Linkouts:  STRING  Pharos  UniProt