ATP2A1

ATP2A1

A gene on chromosome 16p12.1 that encodes a SERCA Ca2+-ATPase, an intracellular pump located in the sarcoplasmic or endoplasmic reticula of muscle cells, which catalyses the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscle contraction and relaxation.

Molecular pathology
ATP2A1 mutations cause some autosomal recessive forms of Brody disease, which is characterised by impaired muscular relaxation during exercise.
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References in periodicals archive ?
SYBR Green quantitative real-time reverse transcription-polymerase chain reaction (RT-PCR) was performed on the genes ATP2A1, ERP27, FKBP1B, MBIP, and 18S rRNA (as an internal control) to confirm the results of gene expression chip.
Both ATP2A1 (encodes calcium ATPase, SERCA2a) and FKBP1B (encodes FKBP12.
Four altered genes - ATP2A1, ERP27, FKBP1B, and MBIP - were selected.