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List of intellectual disability related genes

PUDP - pseudouridine 5'-phosphatase

  • Synonym(s) : DXF68S1E, GS1
  • Previous symbols and names : 'family with sequence similarity 16, member A, X-linked', FAM16AX, HDHD1, HDHD1A, haloacid dehalogenase-like hydrolase domain containing 1, haloacid dehalogenase-like hydrolase domain containing 1A
  • Type : gene with protein product
  • Chromosomal location : Xp22.31
  • OMIM: 306480
  • HGNC: 16818
  • UniProtKB: Q08623
  • Genatlas: -
  • GenCC:
  • Ensembl: ENSG00000130021
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: PUDP

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.