GeneID: 392


Common Name: ATP6V0A4 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_008145.1 (ATP6V0A4)
HUGO Symbol: ATP6V0A4 Full Name: ATPase H+ transporting V0 subunit a4
Exons: 22 Introns: 21

The ATP6V0A4 gene encodes a component of vacuolar ATPase (V-ATPase), a proton channel that functions to maintain acid-base homeostasis either within intracellular compartments or at specialized plasma membranes. V-ATPase is composed of a cytosolic V1 domain (ATP hydrolysis) and a transmembrane V0 domain (proton translocation). ATP6V0A4 encodes the a4 subunit of the V0 domain. Genetic variance in ATP6V0A4 associated with F-cell levels in sickle cell disease.

Synonyms: A4 , STV1 , VPH1 , VPP2 , DRTA3 , RTA1C , RTADR , ATP6N2 , RDRTA2 , ATP6N1B


Publications / Origin

  1. Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
  2. Golder ZJ, Karet Frankl FE, Extra-renal locations of the a4 subunit of H(+)ATPase., BMC Cell Biol., 17(1), 27, 2016
Created on 2020-10-05 17:44:53, Last reviewed on (Show full history)

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