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List of intellectual disability related genes

AP1S1 - adaptor related protein complex 1 subunit sigma 1

  • Synonym(s) : AP19, AP-1 complex subunit sigma-1A, clathrin assembly protein complex 1 sigma-1A small chain, clathrin-associated/assembly/adaptor protein, small 1 (19kD), clathrin coat assembly protein AP19, golgi adaptor HA1/AP1 adaptin sigma-1A subunit, HA1 19 kDa subunit, SIGMA1A, sigma1A-adaptin, sigma1A subunit of AP-1 clathrin adaptor complex, WUGSC:H_DJ0747G18.2
  • Previous symbols and names : CLAPS1, EKV3, adaptor related protein complex 1 sigma 1 subunit, adaptor-related protein complex 1 sigma 1 subunit, adaptor-related protein complex 1, sigma 1 subunit, erythrokeratodermia variabilis 3 (Kamouraska type)
  • Type : gene with protein product
  • Chromosomal location : 7q22.1
  • OMIM: 603531
  • HGNC: 559
  • UniProtKB: P61966
  • Genatlas: AP1S1
  • GenCC: AP1S1
  • Ensembl: ENSG00000106367
  • IUPHAR-DB: -
  • Reactome: P61966
  • LOVD: AP1S1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in MEDNIK syndrome ORPHA:171851
  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

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