Gene Symbol | GNAQ |
Entrez Gene ID | 2776 |
Full Name | G protein subunit alpha q |
Synonyms | CMC1,G-ALPHA-q,GAQ,SWS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]. |
Disorder MIM: | |
Disorder Html: | Sturge-Weber syndrome, somatic, mosaic, 185300 (3); Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) |