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SLC35A1 - solute carrier family 35 member A1

  • Synonym(s) : CMPST, hCST
  • Previous symbols and names : solute carrier family 35 (CMP-sialic acid transporter), member A1, solute carrier family 35 (UDP-galactose transporter), member 1
  • Type : gene with protein product
  • Chromosomal location : 6q15
  • OMIM: 605634
  • HGNC: 11021
  • UniProtKB: P78382
  • Genatlas: SLC35A1
  • GenCC: SLC35A1
  • Ensembl: ENSG00000164414
  • IUPHAR-DB: 1138
  • Reactome: P78382
  • LOVD: SLC35A1

Diseases list

  • Disease-causing germline mutation(s) in SLC35A1-CDG ORPHA:238459
  : Assessed

Additional information

Patient-centred resources for this gene

Specialised Social Services

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