GTR Home > Genes

GNAI3 G protein subunit alpha i3

Also known as: 87U6; ARCND1

Summary

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Auriculocondylar syndrome 1
MedGen: C1865295OMIM: 602483GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page

Genomic context

Location:
1p13.3
Sequence:
Chromosome: 1; NC_000001.11 (109548564..109595843)
Total number of exons:
9

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