DISEASES

Disease-gene associations mined from literature

Literature associating RIC8A and Walker-Warburg syndrome

RIC8A [ENSP00000325941]

RIC8 guanine nucleotide exchange factor A; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation; Armadillo-like helical domain containing

Synonyms:  RIC8A,  RIC8Ap,  hRIC8A,  E9PI04,  E9PLE5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM