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.
Mentioned in ?
References in periodicals archive ?
reported that exposure to methylmercury resulted in changes in several genes associated with muscle development, including postna, atp2a1 and mylpfa and that dysregulation of genes by exposure to mercury disrupts muscular development.
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.
Among these altered genes, a total of 11 genes (ATP2A1, ERP27, FKBP1B, MBIP, PPIC, PRKCZ, VIPR1, PRLR, NIM1K, LOC100355813, and MMP1) were appeared in both model and SXSM originated differentially expressed genes [Supplementary Figure 1] [SUPPORTING:1] Moreover, the expressions of nine of them (ATP2A1, ERP27, FKBP1B, MBIP, PPIC, PRKCZ, VIPR1, PRLR, and NIM1K) were restored by SXSM in model rabbits [Table 1].
Both ATP2A1 (encodes calcium ATPase, SERCA2a) and FKBP1B (encodes FKBP12.6 protein, an inhibitor of calcium release channel [RyR2]) were downregulated in model group and upregulated in M+SXSM group.
Four altered genes - ATP2A1, ERP27, FKBP1B, and MBIP - were selected.