Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

@article{Smith2000MutationsIA,
  title={Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing},
  author={Annabel N. Smith and Jennifer L Skaug and Keith Choate and Ahmet Nayir and Aysin S Bakkaloglu and Seza Ozen and Sally A. Hulton and Sami A. Sanjad and Essam A. Al-Sabban and Richard P. Lifton and Stephen W. Scherer and Fiona Eve Karet},
  journal={Nature Genetics},
  year={2000},
  volume={26},
  pages={71-75}
}
The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of α-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The complete subunit composition of the apical ATPase, however, has not been fully agreed upon. Functional failure of α-intercalated cells results in a group of disorders, the distal renal tubular acidoses (dRTA), whose features include… CONTINUE READING
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