rs905037694
This variant is located in the ATP6V0B gene.
▶ClinVar annotation
About ATP6V0B
This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
View all ATP6V0B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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