ALG6

Chr 1p31.3

ALG6 alpha-1,3-glucosyltransferase

MANE:: ENST00000263440.6

OMIM: 604566 ↗NCBI: 29929 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ALG6 · Q9Y672

v62025-08-01

Predicted Aligned Error matrix for ALG6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.2/ 100

Very high

507 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)13%
Low(50–70)1%
Very low(< 50)2%

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
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

ALG6-congenital disorder of glycosylation 1C
0.83
congenital disorder of glycosylation type I
0.60
neurodegenerative disease
0.55
hereditary disease
0.41
congenital disorder of glycosylation
0.37
lysosomal storage disease
0.18
aging
0.16
Abnormality of the gastrointestinal tract
0.14
Renal cyst
0.12
metabolic dysfunction-associated steatotic liver disease
0.06

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

Protein function (UniProt)

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Dolichyl pyrophosphate Man9GlcNAc2 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 first glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Man(9)GlcNAc(2)-PP-Dol to produce Glc(1)Man(9)GlcNAc(2)-PP-Dol. Glc(1)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG8, the following enzyme in the biosynthetic pathway