x

Search for a gene

* (*) mandatory field
List of intellectual disability related genes

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
  • GenCC: ATP2A1
  • Ensembl: ENSG00000196296
  • IUPHAR-DB: 840
  • Reactome: O14983
  • LOVD: ATP2A1

Diseases list

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

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.