ATP2C1 Products

Description

ATP2C1 is 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 the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.

Bioinformatics

Entrez	27032 Human
Uniprot	AAH28139 Human NP_001001486 Human NP_055197 Human NP_055197.2 Human P98194 Human
Product By Gene ID	27032
Alternate Names	ATPase, Ca++ transporting, type 2C, member 1 BCPM benign chronic pemphigus (Hailey-Hailey disease) Ca(2+)-sequestering calcium-transporting ATPase type 2C member 1 EC 3.6.3 HHD hSPCA1 HUSSY-28 PMR1L secretory pathway Ca2+/Mn2+ ATPase 1