ATP2C1
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.[1][2][3]
This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[3]
References
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External links
[edit | edit source]- Human ATP2C1 genome location and ATP2C1 gene details page in the UCSC Genome Browser.
Further reading
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