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ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

ORPHA118840
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
HGNC
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Diseases list


  • Disease-causing germline mutation(s) (loss of function) in Brody myopathy

 Assessed
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