ALG6

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ALG6
Identifiers
Aliases ALG6, CDG1C, alpha-1,3-glucosyltransferase
External IDs MGI: 2444031 HomoloGene: 6920 GeneCards: 29929
RNA expression pattern
PBB GE ALG6 219649 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013339

NM_001081264

RefSeq (protein)

NP_037471.2

NP_001074733.1

Location (UCSC) Chr 1: 63.37 – 63.44 Mb Chr 4: 99.72 – 99.76 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.[1][2][3]

Function[edit]

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.[3]

References[edit]

  1. ^ Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jun 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proceedings of the National Academy of Sciences of the United States of America 96 (12): 6982–7. doi:10.1073/pnas.96.12.6982. PMC 22030. PMID 10359825. 
  2. ^ Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH (Mar 2002). "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human Molecular Genetics 11 (5): 599–604. doi:10.1093/hmg/11.5.599. PMID 11875054. 
  3. ^ a b "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)". 

Further reading[edit]

External links[edit]