ATP2C1

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Description

ATPase, Ca++ transporting, type 2C, member 1

Protein family

Enzymes, Membrane proteins predicted by MDM, Transporters

Chromosome

3:q22.1 (130569439 - 130735556)

Ensembl ID

ENSG00000017260  (ver. 69.37)

Orthologs

Mouse Atp2c1: ENSMUSG00000032570

Human splice variants
Mouse splice variants