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]
Forensic Context
A study in human postmortem liver tissues from criminal casework demonstrated that targeted RNA massively parallel sequencing could identify tissue origin using a panel of gene biomarkers, with the assay correctly identifying liver in all 27 analyzed samples (PMI 3.5 hours to 37 days) as 98–100% of reads mapped to liver-specific biomarkers [Javan et al. DOI:10.1038/s41598-020-63727-9].