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DRTA3

Chr 7

ATPase H+ transporting V0 subunit a4

Also known as: A4, ATP6N1B, ATP6N2, DRTA3, RDRTA2, RTA1C, RTADR, STV1

NCBI Gene: 50617

This gene encodes the a4 subunit of vacuolar ATPase (V-ATPase), a multisubunit enzyme that acidifies intracellular compartments and is essential for protein sorting, endocytosis, and synaptic vesicle function. Biallelic mutations cause autosomal recessive distal renal tubular acidosis type 3, which may occur with or without sensorineural hearing loss. This condition affects the kidney's ability to acidify urine and can present with failure to thrive, nephrolithiasis, and nephrocalcinosis in infancy or childhood.

GeneReviews ResearchSummary from RefSeq, OMIM

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

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Clinical Summary— DRTA3

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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DRTA3?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429