ALG8

ALG8
Identifiers
AliasesALG8, CDG1H, alpha-1,3-glucosyltransferase, PCLD3, ALG8 alpha-1,3-glucosyltransferase
External IDsOMIM: 608103; MGI: 2141959; HomoloGene: 6931; GeneCards: ALG8; OMA:ALG8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79053

381903

Ensembl

ENSG00000159063

ENSMUSG00000035704

UniProt

Q9BVK2

Q6P8H8

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: 97.02 – 97.04 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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 are associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.