GeneID: 392
Names
| 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 |
Description:
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
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- 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
- Golder ZJ, Karet Frankl FE, Extra-renal locations of the a4 subunit of H(+)ATPase., BMC Cell Biol., 17(1), 27, 2016