x

Search for a gene

* (*) mandatory field

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


Additional information

Patient-centred resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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