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Gene : ATP2A1 Homo sapiens

Name  ? ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Cytological Location  16p11.2
Brief Description  ATPase sarcoplasmic/endoplasmic reticulum Ca2 transporting 1
Description  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]
  • synonyms:
  • calcium pump 1,
  • sarcoplasmic/endoplasmic reticulum calcium ATPase 1,
  • ATP2A,
  • SERCA1,
  • ATP2A1,
  • ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,
  • ATP2A,
  • SERCA1,
  • HGNC:811,
  • uc002drn.1,
  • NM_004320,
  • OTTHUMG00000131760
  • identifiers:
  • 487,
  • ENSG00000196296,
  • ATP2A1

Genome feature

Region: gene ? Length: 26024  
Location: 16:28878488-28904511 Cyto location: 16p11.2


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Disease

1 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results