ATP2A1

(redirected from SERCA1)

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.
Mentioned in ?
References in periodicals archive ?
Immunohistochemical analysis showed that the level of SERCA1 (fast skeletal muscle) was lower in the P8 + N group than in the other groups.
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.