ATP2A1

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Description

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

Protein family

Enzymes, Membrane proteins predicted by MDM

Chromosome

16:p11.2 (28889726 - 28915830)

Ensembl ID

ENSG00000196296  (ver. 69.37)

Orthologs

Mouse Atp2a1: ENSMUSG00000030730

Human splice variants
Mouse splice variants