Genomes and Genes
Gene Symbol: Atp6v0a4
Description: ATPase, H+ transporting, lysosomal V0 subunit A4
Alias: Atp6n1b, V-type proton ATPase 116 kDa subunit a isoform 4, ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1B, V-ATPase 116 kDa, V-ATPase alpha 4, V-type proton ATPase 116 kDa subunit a, vacuolar proton translocating ATPase 100 kDa a4 subunit, vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
- Honda K, Kim S, Kelly M, Burns J, Constance L, Li X, et al. Molecular architecture underlying fluid absorption by the developing inner ear. elife. 2017;6: pubmed publisher..We propose a molecular mechanism for resorption of NaCl by MRCs during development, and conclude that disruption of this mechanism is the root cause of hearing loss associated with EES. ..
- Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, et al. Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. J Biol Chem. 2001;276:42382-8 pubmed..We now report the cloning and characterization of Atp6n1b, encoding a novel fourth murine isoform (a4)...
- Jouret F, Igarashi T, Gofflot F, Wilson P, Karet F, Thakker R, et al. Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int. 2004;65:198-208 pubmed..These data give insight into PT and IC maturation, and explain early phenotypic variants of Dent's disease. ..
- Lorente Cánovas B, Ingham N, Norgett E, Golder Z, Karet Frankl F, Steel K. Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Dis Model Mech. 2013;6:434-42 pubmed publisherMutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment...
- Song R, Preston G, Ichihara A, Yosypiv I. Deletion of the prorenin receptor from the ureteric bud causes renal hypodysplasia. PLoS ONE. 2013;8:e63835 pubmed publisher..We propose that mutations in PRR could possibly cause renal hypodysplasia and renal tubular acidosis in humans. ..
- Golder Z, Karet Frankl F. Extra-renal locations of the a4 subunit of H(+)ATPase. BMC Cell Biol. 2016;17:27 pubmed publisher..In this study novel locations of the a4 subunit were investigated using an Atp6v0a4 knockout mouse line in which a LacZ reporter cassette replaced part of the gene...