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 dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATP2A2-20-RE | 20 (40 μL) | 200 μL |  |
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| ATP2A2-20-OR | 20 (40 μL) | 200 μL |  |
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| ATP2A2-20-GO | 20 (40 μL) | 200 μL |  |
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| ATP2A2-20-GR | 20 (40 μL) | 200 μL |  |
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| ATP2A2-20-AQ | 20 (40 μL) | 200 μL |  |
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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 dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
Gene Symbol : ATP2A2
Gene Name : ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Chromosome : CHR 12: 110,281,226-110,351,092
Locus : 12q24.11
Alt. Genes : LINC01587
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