Orphanet: ATPase sarcoplasmicendoplasmic reticulum Ca2 transporting 1
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ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

  • Synonym(s) : calcium pump 1, sarcoplasmic/endoplasmic reticulum calcium ATPase 1, SERCA1
  • Previous symbols and names : ATP2A, ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • Type : gene with protein product
  • Chromosomal location : 16p11.2
  • OMIM: 108730
  • HGNC: 811
  • UniProtKB: O14983
  • Genatlas: ATP2A1
  • Ensembl: ENSG00000196296
  • IUPHAR-DB: -
  • Reactome: O14983
  • LOVD: ATP2A1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Brody myopathy ORPHA:53347
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


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