ALG6

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ALG6
Identifiers
AliasesALG6, CDG1C, alpha-1,3-glucosyltransferase, ALG6 alpha-1,3-glucosyltransferase
External IDsMGI: 2444031 HomoloGene: 6920 GeneCards: ALG6
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ALG6
Genomic location for ALG6
Band1p31.3Start63,367,575 bp[1]
End63,438,562 bp[1]
RNA expression pattern
PBB GE ALG6 219649 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013339

NM_001081264

RefSeq (protein)

NP_037471

NP_001074733

Location (UCSC)Chr 1: 63.37 – 63.44 MbChr 4: 99.72 – 99.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.[5][6][7]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000088035 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073792 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

Further reading[edit]

External links[edit]