ALG8

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ALG8
Identifiers
AliasesALG8, CDG1H, alpha-1,3-glucosyltransferase, PCLD3, ALG8 alpha-1,3-glucosyltransferase
External IDsMGI: 2141959 HomoloGene: 6931 GeneCards: ALG8
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for ALG8
Genomic location for ALG8
Band11q14.1Start78,100,936 bp[1]
End78,139,653 bp[1]
RNA expression pattern
PBB GE ALG8 203545 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001007027
NM_001007028
NM_024079

NM_199035

RefSeq (protein)

NP_001007028
NP_076984

NP_950200

Location (UCSC)Chr 11: 78.1 – 78.14 MbChr 7: 97.37 – 97.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.[5]

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159063 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035704 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: ALG8 asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

Further reading[edit]

External links[edit]