ATP6V1B1 Gene

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Zhou, V. ATP6V1B1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4904 (accessed on 27 September 2026).

Zhou V. ATP6V1B1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4904. Accessed September 27, 2026.

Zhou, Vicky. "ATP6V1B1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4904 (accessed September 27, 2026).

Zhou, V. (2020, December 24). ATP6V1B1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4904

Zhou, Vicky. "ATP6V1B1 Gene." Encyclopedia. Web. 24 December, 2020.

ATP6V1B1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/atp6v1b1

ATPase H+ transporting V1 subunit B1

genes

References

Alper SL. Familial renal tubular acidosis. J Nephrol. 2010 Nov-Dec;23 Suppl16:S57-76. Review.
Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, BigozziM, Genuardi M, Giglio S, Pela I. Inner ear abnormalities in four patients withdRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol. 2009Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3.
Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubularacidosis. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi:10.1093/ndt/gfs442. Review.
Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, Coto E. DistalRTA with nerve deafness: clinical spectrum and mutational analysis in fivechildren. Pediatr Nephrol. 2007 Jun;22(6):825-8.
Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, WüthrichRP, Wagner CA. Homozygous and compound heterozygous mutations in the ATP6V1B1gene in patients with renal tubular acidosis and sensorineural hearing loss. ClinGenet. 2013 Mar;83(3):274-8. doi: 10.1111/j.1399-0004.2012.01891.x.
Nikali K, Vanegas JJ, Burley MW, Martinez J, Lopez LM, Bedoya G, Wrong OM,Povey S, Unwin RJ, Ruiz-Linares A. Extensive founder effect for distal renaltubular acidosis (dRTA) with sensorineural deafness in an isolated South Americanpopulation. Am J Med Genet A. 2008 Oct 15;146A(20):2709-12. doi:10.1002/ajmg.a.32495.
Sethi SK, Singh N, Gil H, Bagga A. Genetic studies in a family with distalrenal tubular acidosis and sensorineural deafness. Indian Pediatr. 2009May;46(5):425-7.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB,Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A,Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, MirS, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Novel ATP6V1B1 and ATP6V0A4 mutations inautosomal recessive distal renal tubular acidosis with new evidence for hearingloss. J Med Genet. 2002 Nov;39(11):796-803.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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