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ALG12 - ALG12 alpha-1,6-mannosyltransferase

  • Synonym(s) : CDG1G, dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase, ECM39
  • Previous symbols and names : asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
  • Type : gene with protein product
  • Chromosomal location : 22q13.33
  • OMIM: 607144
  • HGNC: 19358
  • UniProtKB: Q9BV10
  • Genatlas: ALG12
  • Ensembl: ENSG00000182858
  • IUPHAR-DB: -
  • Reactome: Q9BV10
  • LOVD: ALG12

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in ALG12-CDG ORPHA:79324
  : Assessed

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


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