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Gene Review:

ATP6V0E1 - ATPase, H+ transporting, lysosomal 9kDa,...

Homo sapiens

Synonyms: ATP6H, ATP6V0E, M9.2, V-ATPase 9.2 kDa membrane accessory protein, V-ATPase M9.2 subunit, ...

Nanji, M. et al., Ochotny, N. et al.

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High impact information on ATP6V0E1

However, deletion of endoplasmic reticulum assembly factors (Vma12p, Vma21p, and Vma22p) partially restored a and B expression [1].
The canine ATP6H is organized into four exons, with a 246-bp open reading frame [2].
Canine ATP6H shows a conserved potential metal binding site, CSVCC, and a glycosylation site, NET [2].
We cloned canine ATP6H, which encodes a predicted protein with 99% amino acid sequence identity to the orthologous human protein [2].
We have also identified two, apparently non-transcribed canine ATP6H pseudogenes [2].

Analytical, diagnostic and therapeutic context of ATP6V0E1

Sequence analysis of the coding regions showed no mutations in ATP6H from genomic DNA of an affected dog [2].
Mapping of the true ATP6H gene and a marker closely linked to the CT locus on a canine radiation hybrid panel indicted lack of close physical association [2].

References

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity. Ochotny, N., Van Vliet, A., Chan, N., Yao, Y., Morel, M., Kartner, N., von Schroeder, H.P., Heersche, J.N., Manolson, M.F. J. Biol. Chem. (2006) [Pubmed]
ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis. Nanji, M., Coronado, V.A., Cox, D.W. Mamm. Genome (2001) [Pubmed]

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ATP6V0E1	Bos taurus
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atp6v0e1	Danio rerio
ATP6V0E1	Gallus gallus
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Atp6v0e	Mus musculus
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atp6v0e1	Xenopus (Silurana) tropicalis

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