| ATP2A2 |
| LOCUS ID | 488 | ||||||||||
| GENE_SYMBOL | ATP2A2 | ||||||||||
| GENE NAME | ATPase sarcoplasmic/ | ||||||||||
| SYNONYMNS | DD, DAR, ATP2B, SERCA2 | ||||||||||
| CHROMOSOME | 12 | ||||||||||
| HOMOLOGENE ID | 80167 |
| microRNAs | NA | NA |
| 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 l |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Neuropathy | 1. 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 |