kDa subunit a isoform 4 is an enzyme that in humans is encoded by the ATP6V0A4 gene. This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit...
6 KB (735 words) - 01:52, 19 August 2023
present in the patient's life. Patient's with mutations in ATP6V1B1 and ATP6V0A4 will present with symptoms within the first year of life, while those with...
19 KB (2,073 words) - 05:58, 19 July 2024
Geibel JP, Wagner CA (December 2003). "Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal...
44 KB (4,869 words) - 03:56, 23 June 2024
ATP6V1E2, ATP6V1F, ATP6V1G1, ATP6V1G2, ATP6V1G3, ATP6V1H, ATP6V0A1, ATP6V0A2, ATP6V0A4, ATP6V0B, ATP6V0C, ATP6V0D1, ATP6V0D2, ATP6V0E Cu++ transporting: ATP7A...
18 KB (2,106 words) - 04:39, 11 July 2024
Q9UI12 1276 ATP6V0A1 HGNC:865 Q93050 1277 ATP6V0A2 HGNC:18481 Q9Y487 1278 ATP6V0A4 HGNC:866 Q9HBG4 1279 ATP6V0B HGNC:861 Q99437 1280 ATP6V0C HGNC:855 P27449...
277 KB (17 words) - 18:34, 6 October 2024
accumulation of citrate and acetyl-CoA. PFKM has been shown to interact with ATP6V0A4. Click on genes, proteins and metabolites below to link to respective articles...
16 KB (1,928 words) - 22:13, 27 March 2024
a4 subunits of the kidney H+-ATPase due to mutation of the ATP6V1B1 andATP6V0A4 genes respectively. Hereditary 'Proximal' or 'Type 2 RTA' may be caused...
17 KB (2,198 words) - 04:24, 3 January 2024
611590; SLC4A1 Renal tubular acidosis, distal, autosomal recessive; 602722; ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4...
234 KB (18,877 words) - 15:43, 9 May 2024
genes include the SLC4A1 on chromosome 17, ATP6V1B1 on chromosome 2, and ATP6V0A4 on chromosome 7. Nephrons are the functional cells of the kidney and are...
6 KB (620 words) - 22:49, 18 April 2022