Article
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Nature genetics - 1 Sept 2000
Smith A N, Skaug J, Choate K A, Nayir A, Bakkaloglu A, Ozen S, Hulton S A, Sanjad S A, Al-Sabban E A, Lifton R P, Scherer S W, Karet F E
Abstract excerpt
The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of -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 -intercalated cells results in a group of...
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