DISEASES

Disease-gene associations mined from literature

Literature associating GPR126 and idiopathic scoliosis

GPR126 [ENSP00000356581]

Developmentally regulated G-protein-coupled receptor; G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins. Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity).

Synonyms:  GPR126,  GPR126p,  hGPR126,  ADGRG6,  F5H054 ...

Linkouts:  STRING  Pharos  UniProt  OMIM