Species Human Entrez 487 | Human Mouse Ensembl ENSG00000196296 | |
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Aliases ATP2A1, ATP2A, SERCA1, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 External IDs MGI: 105058 HomoloGene: 7635 GeneCards: ATP2A1 | ||
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 is an enzyme that in humans is encoded by the ATP2A1 gene.
Contents
Function
This gene encodes one of the SERCA Ca2+-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.
Clinical significance
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.
Interactions
ATP2A1 has been shown to interact with:
References
ATP2A1 Wikipedia(Text) CC BY-SA