Skip to
  1. Homepage
  2. Rare diseases
  3. Genes
Simple search

Simple search

(*) mandatory field


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
HGNC 811
Genatlas ATP2A1
Ensembl ENSG00000196296
Reactome O14983

Diseases list

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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.