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XYLT1 - xylosyltransferase 1

  • Synonym(s) : protein xylosyltransferase 1, PXYLT1, XT-I
  • Previous symbols and names : xylosyltransferase I
  • Type : gene with protein product
  • Chromosomal location : 16p12.3
  • OMIM: 608124
  • HGNC: 15516
  • UniProtKB: Q86Y38
  • Genatlas: XYLT1
  • Ensembl: ENSG00000103489
  • IUPHAR-DB: -
  • Reactome: Q86Y38
  • LOVD: XYLT1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Desbuquois syndrome
  • Disease-causing germline mutation(s) (loss of function) in XYLT1-CDG
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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