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APPL1 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

  • Synonym(s) : APPL, DCC-interacting protein 13-alpha
  • Previous symbols and names : adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
  • Type : gene with protein product
  • Chromosomal location : 3p14.3
  • OMIM: 604299
  • HGNC: 24035
  • UniProtKB: Q9UKG1
  • Genatlas: APPL1
  • Ensembl: ENSG00000157500
  • IUPHAR-DB: -
  • Reactome: Q9UKG1
  • LOVD: APPL1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in MODY ORPHA:552
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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