ATP2C1, also known as PMR1, it 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. The human homologue, ATP2C1 (also designated SPLA in rat), also regulates the transport of calcium in the Golgi complex and is related to other P-type ATPases family members, such as the sarco(endo)plasmic calcium ATPase (SERCA) and the plasma membrane calcium ATPase (PCMA). ATP2C1 is a transmembrane protein that exists as two splice variants, which vary by 20 amino acids. Defects in ATP2C1 cause Hailey-Hailey disease, which is an autosomal dominant disorder that is characterized by blisters and erosions of the skin. These findings provide further evidence that PMR1 plays a key role in maintaining the integrity of the epidermis by controlling intracellular calcium signaling.
Aliases : HHD; BCPM; PMR1; SPCA1
Entrez GeneID : 27032
Swissprot : P98194
WB Predicted band size : 100kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Monkey
Immunogen: Purified recombinant fragment of ATP2C1 expressed in E. Coli.
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