ATP2A3 Chromosome 17
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
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What This Gene Does
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 calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000074370
Associated Conditions (1)
ATP2A3-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143580145 | Health Risk | Conflicting classifications of pathogenicity | ATP2A3-related disorder, ATP2A3-related disorder |
| RS199574831 | Health Risk | Conflicting classifications of pathogenicity | — |