ALG8

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ALG8, alpha-1,3-glucosyltransferase
Identifiers
Symbols ALG8 ; CDG1H
External IDs OMIM608103 MGI2141959 HomoloGene6931 GeneCards: ALG8 Gene
EC number 2.4.1.265
RNA expression pattern
PBB GE ALG8 203545 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79053 381903
Ensembl ENSG00000159063 ENSMUSG00000035704
UniProt Q9BVK2 Q6P8H8
RefSeq (mRNA) NM_001007027 NM_199035
RefSeq (protein) NP_001007028 NP_950200
Location (UCSC) Chr 11:
78.1 – 78.14 Mb
Chr 7:
97.37 – 97.39 Mb
PubMed search [1] [2]

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

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.[1]

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