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List of intellectual disability related genes

PLEKHG4 - pleckstrin homology and RhoGEF domain containing G4

  • Synonym(s) : ARHGEF44, DKFZP434I216, puratrophin-1
  • Previous symbols and names : SCA4, pleckstrin homology domain containing, family G (with RhoGef domain) member 4, spinocerebellar ataxia 4
  • Type : gene with protein product
  • Chromosomal location : 16q22.1
  • OMIM: 609526
  • HGNC: 24501
  • UniProtKB: Q58EX7
  • Genatlas: PLEKHG4
  • GenCC: PLEKHG4
  • Ensembl: ENSG00000196155
  • IUPHAR-DB: -
  • Reactome: Q58EX7
  • LOVD: PLEKHG4

Diseases list

  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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