GTR Home > Genes

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

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]

Associated conditions

See all available tests in GTR for this gene

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

Genomic context

Location:
9q21.2
Sequence:
Chromosome: 9; NC_000009.12 (77716097..78031811, complement)
Total number of exons:
8

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center