ATP2A1

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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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SERCA1 truncated proteins unable to pump calcium reduce the endoplasmic reticulum calcium concentration and induce apoptosis.
Finally, the expression of SERCA1 was greater in WG, while SERCA2 was more expressed in SOL.
Immunohistochemical analysis showed that the level of SERCA1 (fast skeletal muscle) was lower in the P8 + N group than in the other groups.
La funcion de la SERCA3 parece ser, junto con la SERCA1, el control de la relajacion del musculo liso vascular y traqueal (29).
SERCA1 and SERCA2 genes are different in their C-terminate (18).
Another proteolipid, which appears to be involved in the regulation of SERCA1 activity is sarcolipin.