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Article

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

PLoS genetics - 1 Feb 2017

Zhang Yihan, Huang Haigen, Zhao Gexin, Yokoyama Tadafumi, Vega Hugo, Huang Yan, Sood Raman, Bishop Kevin, Maduro Valerie, Accardi John, Toro Camilo, Boerkoel Cornelius F, Lyons Karen, Gahl William A, Duan Xiaohong, Malicdan May Christine V, Lin Shuo

Abstract excerpt

ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H. Since V-ATPases are highly conserved between human and zebrafish, we generated loss-of-function mutants in atp6v1h in zebrafish through CRISPR/Cas9-mediated gene knockout. Homozygous mutant atp6v1h...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28158191
DOI: 10.1371/journal.pgen.1006481
PMCID: PMC5291374

Genes

MMP13
MMP9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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