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ALG1 - ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

  • Synonym(s) : CDG1K, HMAT1, HMT-1, Mat-1
  • Previous symbols and names : ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase, asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase), asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)
  • Type : gene with protein product
  • Chromosomal location : 16p13.3
  • OMIM: 605907
  • HGNC: 18294
  • UniProtKB: Q9BT22
  • Genatlas: ALG1
  • Ensembl: ENSG00000033011
  • IUPHAR-DB: -
  • Reactome: Q9BT22
  • LOVD: ALG1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in ALG1-CDG ORPHA:79327
  : Assessed

Additional information

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