Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

@article{Karet1999MutationsIT,
  title={Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness},
  author={Fiona E. Karet and Karin E Finberg and Raoul D. Nelson and Ahmet Nayır and Hilal Mocan and Sami A. Sanjad and J Rodr{\'i}guez-soriano and Fernando Santos and Cor W.R.J. Cremers and Antonio Di Pietro and Barry I Hoffbrand and Jacek H Winiarski and Ayșin Bakkaloğlu and Seza Ozen and Ruhan Dusunsel and Paul R. Goodyer and Sally Anne Hulton and Doris K. Wu and Anne B. Skvorak and Cynthia C. Morton and Michael J. Cunningham and Vivekanand Jha and Richard P. Lifton},
  journal={Nature Genetics},
  year={1999},
  volume={21},
  pages={84-90}
}
H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis. Patients with ATP6B1 mutations also have sensorineural hearing loss; consistent… 

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