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GNAQ G protein subunit alpha q

Gene ID: 2776, updated on 5-Jan-2022
Gene type: protein coding
Also known as: GAQ; SWS; CMC1; G-ALPHA-q


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]

Associated conditions

See all available tests in GTR for this gene

Familial multiple nevi flammei
MedGen: C2931029OMIM: 163000GeneReviews: Not available
See labs
Sturge-Weber syndrome
MedGen: C0038505OMIM: 185300GeneReviews: Not available
See labs

Genomic context

Chromosome: 9; NC_000009.12 (77716097..78031811, complement)
Total number of exons:


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