ATP2A1

Chr 16

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Also known as: ATP2A, SERCA1

NCBI Gene: 487 ENSG00000196296 UniProt: O14983

This gene encodes SERCA1, a calcium ATPase pump that translocates calcium from the cytosol into the sarcoplasmic reticulum lumen in muscle cells, which is essential for muscle relaxation after contraction. Biallelic mutations cause Brody myopathy, an autosomal recessive disorder characterized by progressive impairment of muscle relaxation during exercise. The gene shows relatively low constraint to loss-of-function variation (LOEUF 0.833), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

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 three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…