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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit
Chromosome 1 Β· 1p21.3
NCBI Gene: 199857Ensembl: ENSG00000172339.11HGNC: HGNC:28287UniProt: Q96F25
21PubMed Papers
23Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein N-linked glycosylationprotein bindingprotein-membrane adaptor activitydolichol-linked oligosaccharide biosynthetic processCongenital myasthenic syndromesneurodegenerative diseasecongenital myasthenic syndrome 15myopathy, epilepsy, and progressive cerebral atrophy
✦AI Summary

ALG14 encodes a subunit of the UDP-N-acetylglucosamine transferase complex essential for N-linked glycoprotein biosynthesis 1. As a protein-membrane adapter, ALG14 recruits ALG13 at the endoplasmic reticulum cytoplasmic face, catalyzing the second step of dolichol-linked oligosaccharide assembly by transferring N-acetylglucosamine from UDP-GlcNAc to produce N,N'-diacetylchitobiosyl diphosphodolichol 1. This intermediate serves as substrate for subsequent glycosylation pathway enzymes. ALG14 complex formation depends critically on C-terminal interactions between ALG13 and ALG14 1. Pathogenic ALG14 variants cause congenital disorders of glycosylation with diverse clinical presentations. Mutations are associated with congenital myasthenic syndromes characterized by neuromuscular junction dysfunction 23, and expanded phenotypes including severe early neurodegeneration, progressive cerebral atrophy, therapy-refractory epilepsy, and myopathy with fatal outcomes typically in infancy 4. ALG14 variants also contribute to myopathies with tubular aggregates, where reduced protein expression impairs glycosylation pathways 5. These glycosylation defects underscore ALG14's critical role in proper protein folding and neuromuscular function, making it essential for normal neurodevelopment and muscle physiology.

Sources cited
1
ALG14 forms the UDP-N-acetylglucosamine transferase complex with ALG13 through C-terminal interactions to catalyze the second step of N-linked glycosylation
PMID: 18809682
2
ALG14 mutations cause congenital myasthenic syndromes affecting neuromuscular junction function
PMID: 36835142
3
ALG14 is among recently identified disease genes causing congenital myasthenic syndromes
PMID: 29892917
4
ALG14 mutations cause a glycosylation defect presenting with severe neurodegeneration, cerebral atrophy, therapy-refractory epilepsy, myopathy, and infantile lethality
PMID: 28733338
5
ALG14 variants are associated with myopathies with tubular aggregates and reduced protein expression
PMID: 34908252
Disease Associationsβ“˜23
Congenital myasthenic syndromesOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
congenital myasthenic syndrome 15Open Targets
0.52Moderate
myopathy, epilepsy, and progressive cerebral atrophyOpen Targets
0.49Moderate
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesOpen Targets
0.45Moderate
congenital myopathyOpen Targets
0.43Moderate
congenital myasthenic syndromeOpen Targets
0.37Weak
congenital myasthenic syndromes with glycosylation defectOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.19Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.08Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.07Suggestive
keratoconus 5Open Targets
0.07Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.07Suggestive
response to xenobiotic stimulusOpen Targets
0.06Suggestive
keratoconus 1Open Targets
0.06Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.06Suggestive
corneal endothelial dystrophyOpen Targets
0.06Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.06Suggestive
Schnyder corneal dystrophyOpen Targets
0.06Suggestive
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesUniProt
Myasthenic syndrome, congenital, 15UniProt
Myopathy, epilepsy, and progressive cerebral atrophyUniProt
Pathogenic Variants1
NM_144988.4(ALG14):c.194C>T (p.Pro65Leu)Pathogenic
Congenital myasthenic syndrome 15
β˜†β˜†β˜†β˜†2013β†’ Residue 65
View on ClinVar β†—
Related Genes
ALG9Shared pathway100%ALG10Shared pathway100%RFT1Shared pathway100%ALG10BShared pathway100%ALG13Protein interaction99%DPM1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Brain
78%
Heart
51%
Ovary
48%
Lung
36%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
ALG14ALG9ALG10RFT1ALG10BALG13DPM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96F25
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.05]
RankingsWhere ALG14 stands among ~20K protein-coding genes
  • #13,824of 20,598
    Most Researched21
  • #5,356of 5,498
    Most Pathogenic Variants1
  • #10,584of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedALG14
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
PMID: 36835142
Int J Mol Sci Β· 2023
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Genetic defects are common in myopathies with tubular aggregates.
PMID: 34908252
Ann Clin Transl Neurol Β· 2022
0.80
4
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
PMID: 35327592
Biomolecules Β· 2022
0.70
5
Congenital Myasthenic Syndromes in 2018.
PMID: 29892917
Curr Neurol Neurosci Rep Β· 2018
0.60