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Article

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.

The Journal of biological chemistry - 8 Sept 2006

Ochotny Noelle, Van Vliet Aaron, Chan Nelson, Yao Yeqi, Morel Mario, Kartner Norbert, von Schroeder Herbert P, Heersche Johan N M, Manolson Morris F

Abstract excerpt

V-ATPases are multimeric proton pumps. The 100-kDa "a" subunit is encoded by four isoforms (a1-a4) in mammals and two (Vph1p and Stv1p) in yeast. a3 is enriched in osteoclasts and is essential for bone resorption, whereas a4 is expressed in the distal nephron and acidifies urine. Mutations in human a3 and a4 result in osteopetrosis and distal renal tubular acidosis, respectively. Human a3 (G405R and R444L) and a4...

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PMID: 16840787
DOI: 10.1074/jbc.M601118200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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