Disease-gene associations mined from literature

Literature associating GCGR and Miura type epiphyseal chondrodysplasia

GCGR [ENSP00000383558]

Glucagon receptor; G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system.

Synonyms:  GCGR,  I3L1L8,  I3L454,  P47871,  I3L1L8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM