GTR Home > Genes

TCIRG1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Also known as: a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa

Summary

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Osteopetrosis autosomal recessive 1
MedGen: C1850127OMIM: 259700GeneReviews: Not available
See labs

Genomic context

Location:
11q13.2
Sequence:
Chromosome: 11; NC_000011.10 (68038995..68053839)
Total number of exons:
23

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