De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

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Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10.

PubMed ID
24913193 [ View in PubMed
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Abstract

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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
V-type proton ATPase subunit B, brain isoformP21281Details