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ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Also known as: ATP2A; SERCA1

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 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Brody myopathy
MedGen: C1832918OMIM: 601003GeneReviews: Not available
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Genomic context

Location:
16p11.2
Sequence:
Chromosome: 16; NC_000016.10 (28878488..28904509)
Total number of exons:
24

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