ATP6V1B1 Antibody

1. RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+. PMID: 29054531
2. 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
3. Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. PMID: 29024829
4. A novel c.1169dupC frameshift mutation of ATP6V1B1 gene was identified in one family and the c.1155dupC North African mutation in 2 other families. Both mutations are located in exon 12 of ATP6V1B1 gene in Moroccan patients with recessive form of distal renal tubular acidosis associated with precocious hearing loss. PMID: 27140593
5. 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
6. Our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones PMID: 26453614
7. ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families. PMID: 25498251
8. Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. PMID: 25285676
9. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss PMID: 24975934
10. demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance; propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency PMID: 25164082
11. Rare and family-specific variants in ATP6V1B1 are responsible for distal renal tubular acidosis and sensorineural hearing loss syndrome in Turkey. PMID: 23923981
12. Mutations of the ATP6V1B1 gene is associated with primary distal renal tubular acidosis. PMID: 23729491
13. Three ATP6V1B1 mutations were observed: one frameshift mutation in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site in intron 2, and one novel missense mutation in exon 11. PMID: 24252324
14. Data indicate that direct sequencing of the ATP6V1B1 gene showed one patient harbors two homozygous mutations and the other one is a compound heterozygous. PMID: 22509993
15. Only two ATP6V1B1 mutations are found in a Cypriot population with distal renal tubular acidosis. PMID: 20805693
16. This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. PMID: 20622307
17. two novel mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 in distal renal tubular acidosis and hearing loss PMID: 20233014
18. Two siblings with distal renal tubular acidosis and sensorineural deafness having mutation in the first coding exon of the ATP6V1B1 gene , resulting in a non functional protein, are reported. The parents were found to be carriers for the mutation. PMID: 19478356
19. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. PMID: 16433694
20. This report describes a new mutation in the ATP6V1B1 gene responsible for distal renal tubular acidosis. PMID: 17216496
21. A mutation in ATP6V1B1 is associated with enlarged vestibular aqueduct and early onset of sensorial hearing loss. PMID: 19639346

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HGNC: 853

OMIM: 192132

KEGG: hsa:525

STRING: 9606.ENSP00000234396

UniGene: Hs.64173