rs2541842646

This variant is located in the ATP6V0A2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

ALG9 congenital disorder of glycosylation

About ATP6V0A2

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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