U.S. flag

An official website of the United States government

GTR Home > Genes

ATP6V0A1 ATPase H+ transporting V0 subunit a1

Gene ID: 535, updated on 10-Oct-2024
Gene type: protein coding
Also known as: a1; Stv1; VPP1; Vph1; ATP6N1; DEE104; NEDEBA; ATP6N1A

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Developmental and epileptic encephalopathy 104
MedGen: C5774183OMIM: 619970GeneReviews: Not available
not available
Neurodevelopmental disorder with epilepsy and brain atrophy
MedGen: C5774184OMIM: 619971GeneReviews: Not available
not available

Genomic context

Location:
17q21.2
Sequence:
Chromosome: 17; NC_000017.11 (42458878..42522579)
Total number of exons:
27

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.