ATP6V1E1 Chromosome 22

ATPase H+ transporting V1 subunit E1

2 variants 2 Health Risk

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What This Gene Does

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

V-type ATPase subunits

Locus Type

gene with protein product

Location

22q11.21

Ensembl

ENSG00000131100

Associated Conditions (2)

Autosomal recessive cutis laxa type 2C

Cutis laxa

Key Variants

RS746489312

Conflicting classifications of pathogenicity

Health Risk

RS1028534806

Pathogenic/Likely pathogenic

Autosomal recessive cutis laxa type 2C, Cutis laxa, Autosomal recessive cutis laxa type 2C

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS746489312	Health Risk	Conflicting classifications of pathogenicity	—
RS1028534806	Health Risk	Pathogenic/Likely pathogenic	Autosomal recessive cutis laxa type 2C, Cutis laxa, Autosomal recessive cutis laxa type 2C