ATP2A2
LOCUS ID488
GENE_SYMBOLATP2A2
GENE NAMEATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SYNONYMNSDD, DAR, ATP2B, SERCA2
CHROMOSOME12
HOMOLOGENE ID80167
microRNAsNANA
GENE SUMMARY
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 into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal domint skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Altertive splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

OBSERVATIONS

Complication Evidence PMID
Neuropathy1. We conclude that in patients with diabetic neuropathy there are abnormalities of Ca(2+)-Mg(2+)-ATPase activity and Ca(2+). This provides further support for the role of microangiopathy in the pathogenesis of neuropathy.10963822