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List of intellectual disability related genes

HPS4 - HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

  • Synonym(s) : BLOC3S2, KIAA1667, LE
  • Previous symbols and names : Hermansky-Pudlak syndrome 4
  • Type : gene with protein product
  • Chromosomal location : 22q12.1
  • OMIM: 606682
  • HGNC: 15844
  • UniProtKB: Q9NQG7
  • Genatlas: HPS4
  • GenCC: HPS4
  • Ensembl: ENSG00000100099
  • IUPHAR-DB: -
  • Reactome: Q9NQG7
  • LOVD: HPS4

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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