ALG14

Chr 1p21.3

ALG14 UDP-N-acetylglucosaminyltransferase subunit

Aliases:: MGC19780
MANE:: ENST00000370205.6

OMIM: 612866 ↗NCBI: 199857 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ALG14 · Q96F25

v62025-08-01

Predicted Aligned Error matrix for ALG14 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.9/ 100

Very high

216 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)24%
Low(50–70)2%
Very low(< 50)0%

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
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis

Disease associations (Open Targets)

Congenital myasthenic syndromes
0.63
neurodegenerative disease
0.53
congenital myasthenic syndrome 15
0.52
myopathy, epilepsy, and progressive cerebral atrophy
0.49
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
0.45
congenital myopathy
0.43
congenital myasthenic syndrome
0.37
congenital myasthenic syndromes with glycosylation defect
0.37
hereditary disease
0.19
Intellectual disability
0.19

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

Protein function (UniProt)

UDP-N-acetylglucosamine transferase subunit ALG14

Part of the UDP-N-acetylglucosamine transferase complex 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 oligosaccharides are transferred from the lipid to nascent proteins by oligosaccharyltransferases. Functions as a protein-membrane adapter recruiting ALG13 at the cytoplasmic face of the endoplasmic reticulum, where the complex catalyzes the second step of dolichol pyrophosphate biosynthesis, transferring a beta1,4-linked N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to GlcNAc-pyrophosphatedolichol (Gn-PDol) to produce N,N'-diacetylchitobiosyl diphosphodolichol. N,N'-diacetylchitobiosyl diphosphodolichol is a substrate for ALG1, the following enzyme in the biosynthetic pathway