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List of intellectual disability related genes

ATP2C1 - ATPase secretory pathway Ca2+ transporting 1

  • Synonym(s) : ATP2C1A, calcium-transporting ATPase type 2C member 1, KIAA1347, PMR1, secretory pathway Ca2+/Mn2+ ATPase 1, SPCA1
  • Previous symbols and names : ATPase, Ca++ transporting, type 2C, member 1, BCPM, benign chronic pemphigus (Hailey-Hailey disease)
  • Type : gene with protein product
  • Chromosomal location : 3q22.1
  • OMIM: 604384
  • HGNC: 13211
  • UniProtKB: P98194
  • Genatlas: ATP2C1
  • GenCC: ATP2C1
  • Ensembl: ENSG00000017260
  • IUPHAR-DB: 847
  • Reactome: P98194
  • LOVD: ATP2C1

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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