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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATP2A1BA-20-REGO | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-REGR | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-GROR | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| ATP2A1BA-20-AQOR | 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 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]
Gene Symbol : ATP2A1
Gene Name : ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Chromosome : CHR 16: 288,784,87-289,045,08
Locus : 16p11.2
Alt. Genes : EBI3
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