ALG6

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ALG6, alpha-1,3-glucosyltransferase
Identifiers
Symbols ALG6 ; CDG1C
External IDs OMIM604566 MGI2444031 HomoloGene6920 GeneCards: ALG6 Gene
EC number 2.4.1.267
RNA expression pattern
PBB GE ALG6 219649 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 29929 320438
Ensembl ENSG00000088035 ENSMUSG00000073792
UniProt Q9Y672 Q3TAE8
RefSeq (mRNA) NM_013339 NM_001081264
RefSeq (protein) NP_037471 NP_001074733
Location (UCSC) Chr 1:
63.83 – 63.9 Mb
Chr 4:
99.72 – 99.76 Mb
PubMed search [1] [2]

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

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 (Jul 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proc Natl Acad Sci U S A 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". Hum Mol Genet 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]

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