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List of intellectual disability related genes

AP1B1 - adaptor related protein complex 1 subunit beta 1

  • Synonym(s) : AP105A, BAM22
  • Previous symbols and names : 'ADTB1, CLAPB2', ADTB1, CLAPB2, adaptor related protein complex 1 beta 1 subunit
  • Type : gene with protein product
  • Chromosomal location : 22q12.2
  • OMIM: 600157
  • HGNC: 554
  • UniProtKB: Q10567
  • Genatlas: -
  • GenCC:
  • Ensembl: ENSG00000100280
  • IUPHAR-DB: -
  • Reactome: Q10567
  • LOVD: AP1B1

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

Specialised Social Services

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