Article
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Nature genetics - 1 Jan 1999
Karet F E, Finberg K E, Nelson R D, Nayir A, Mocan H, Sanjad S A, Rodriguez-Soriano J, Santos F, Cremers C W, Di Pietro A, Hoffbrand B I, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S A, Wu D K, Skvorak A B, Morton C C, Cunningham M J, Jha V, Lifton R P
Abstract excerpt
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 d...
Topics
- Acidosis, Renal Tubular
- Base Sequence
- Child, Preschool
- Chromosomes, Human, Pair 2
- Cochlea
- Female
- Genes, Recessive
- Genetic Linkage
- Hearing Loss, Sensorineural
- Humans