ALG8

Chr 11q14.1

ALG8 alpha-1,3-glucosyltransferase

Aliases:: MGC2840
MANE:: ENST00000299626.10

OMIM: 608103 ↗NCBI: 79053 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ALG8 · Q9BVK2

v62025-08-01

Predicted Aligned Error matrix for ALG8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.6/ 100

Very high

526 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)11%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

ALG8-congenital disorder of glycosylation
0.82
polycystic liver disease 3 with or without kidney cysts
0.75
Isolated polycystic liver disease
0.60
neurodegenerative disease
0.54
autosomal dominant polycystic liver disease
0.53
familial cystic renal disease
0.51
hereditary disease
0.49
cystic kidney disease
0.47
autosomal dominant polycystic kidney disease
0.37
congenital disorder of glycosylation
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the second glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(1)Man(9)GlcNAc(2)-PP-Dol to produce Glc(2)Man(9)GlcNAc(2)-PP-Dol. Glc(2)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG10, the following enzyme in the biosynthetic pathway (PubMed:12480927, PubMed:15235028). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity)