Recombinant Human V-type proton ATPase 116 kDa subunit a isoform 4 (ATP6V0A4), partial

1. The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. PMID: 30230413
2. Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. PMID: 29024829
3. The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. PMID: 28233610
4. ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase. PMID: 25951193
5. e have described patients with severe distal renal tubular acidosis and a novel splicing mutation in the ATP6V0A4 gene in a family originating from the Siliana region in northwestern Tunisia PMID: 25572248
6. For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases. PMID: 25285676
7. Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL PMID: 24975934
8. Mutations of the ATP6V0A4 gene is associated with primary distal renal tubular acidosis. PMID: 23729491
9. Case Report: novel ATP6V0A4 gene mutation confirmed autosomal recessive distal renal tubular acidosis with normal hearing. PMID: 22854161
10. Four mutations in the ATP6V0A4 gene were obesrved one single nucleotide deletion in exon 13, the nonsensein exon 3, and the missense changes in exon 17 and in exon 19. PMID: 24252324
11. This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors. PMID: 22460948
12. There is the first evidence presented with progressive hearing loss associated with ATP6VOA4 mutation in a chinese patient. PMID: 22093743
13. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. PMID: 20221774
14. stability and function of the metabolon composed of H+ATPase and glycolytic components can be compromised by either loss of required PFK-1 binding (G820R) or loss of pump protein (R807Q) PMID: 18632794
15. the a4 isoform may be responsible for targeting V-ATPases to the plasma membrane of MB231 cells and that cell surface V-ATPases play a significant role in breast cancer invasion PMID: 19366680
16. Mutations in ATP6V0A4 present enlarged vestibular aqueduct and early onset sensorial hearing loss. PMID: 19639346

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HGNC: 866

OMIM: 602722

KEGG: hsa:50617

STRING: 9606.ENSP00000253856

UniGene: Hs.98967