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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
Chromosome X Β· Xq23
NCBI Gene: 79868Ensembl: ENSG00000101901.13HGNC: HGNC:30881UniProt: A0A087WT15
69PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein N-linked glycosylationN-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activityprotein bindingdolichol-linked oligosaccharide biosynthetic processdevelopmental and epileptic encephalopathy, 36ALG13-CDGEpileptic encephalopathySeizure
✦AI Summary

ALG13 encodes a subunit of the UDP-N-acetylglucosamine (UDP-GlcNAc) transferase enzyme complex, functioning as a key component in the N-linked glycosylation pathway within the endoplasmic reticulum 1. This pathway catalyzes the attachment of carbohydrate structures to asparagine residues in proteins, with N-glycosylated products participating in critical neurobiological processes including electrical gradient formation and neurotransmission 1. ALG13 mutations cause ALG13-Congenital Disorder of Glycosylation (ALG13-CDG), a rare X-linked disorder of N-linked glycosylation 2. Pathogenic ALG13 variants demonstrate strong statistical association with developmental and epileptic encephalopathy 3, with epileptic spasms representing the most common presenting symptom, often accompanied by developmental delay, intellectual disability, microcephaly, and hypotonia 4. ALG13 ranks among the top genetic causes of infantile epileptic spasms syndrome in cohort studies 5. Long-term outcomes in surviving patients (predominantly females, as males rarely survive to adulthood) include persistent seizures, severe communication difficulties, gastrointestinal and skeletal involvement, with ketogenic diet showing promising therapeutic efficacy 2. Current management focuses on symptomatic treatment including ACTH/prednisolone and vigabatrin trials 4.

Sources cited
1
ALG13 encodes UDP-GlcNAc transferase subunit involved in N-linked glycosylation pathway affecting neurobiological processes
PMID: 39673593
2
ALG13-CDG is X-linked disorder of N-linked glycosylation with long-term neurological, gastrointestinal, and skeletal involvement
PMID: 36930724
3
ALG13 de novo mutations show statistical association with epileptic encephalopathy in infantile spasms and Lennox-Gastaut syndrome
PMID: 23934111
4
ALG13-CDG presents with epileptic spasms as most common symptom, plus developmental delay, intellectual disability, and microcephaly; management guidelines recommend ACTH/prednisolone and vigabatrin
PMID: 38703411
5
ALG13 is among the top genetic causes of infantile epileptic spasms syndrome in multicenter cohort
PMID: 37583270
Disease Associationsβ“˜21
developmental and epileptic encephalopathy, 36Open Targets
0.76Strong
ALG13-CDGOpen Targets
0.71Strong
Epileptic encephalopathyOpen Targets
0.54Moderate
SeizureOpen Targets
0.47Moderate
congenital disorder of glycosylationOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
developmental and epileptic encephalopathyOpen Targets
0.41Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.40Weak
Neurodevelopmental delayOpen Targets
0.38Weak
congenital disorder of glycosylation type IOpen Targets
0.37Weak
Congenital myasthenic syndromesOpen Targets
0.37Weak
non-syndromic X-linked intellectual disabilityOpen Targets
0.37Weak
X-linked non-syndromic intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
microcephalyOpen Targets
0.35Weak
Rare genetic intellectual disabilityOpen Targets
0.33Weak
HypotoniaOpen Targets
0.32Weak
infantile spasmsOpen Targets
0.12Weak
infantile epileptic-dyskinetic encephalopathyOpen Targets
0.12Weak
Developmental and epileptic encephalopathy 36UniProt
Pathogenic Variants11
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)Pathogenic
Developmental and epileptic encephalopathy, 36|not provided|Rare genetic intellectual disability|Seizure|Intellectual disability|Seizure;Hypotonia;Microcephaly;Neurodevelopmental delay|Inborn genetic diseases|ALG13-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_001099922.3(ALG13):c.412dup (p.Ser138fs)Likely pathogenic
Seizure
β˜…β˜†β˜†β˜†2024β†’ Residue 138
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)Likely pathogenic
Developmental and epileptic encephalopathy, 36
β˜…β˜†β˜†β˜†2023β†’ Residue 44
NM_001099922.3(ALG13):c.120A>C (p.Gln40His)Pathogenic
Developmental and epileptic encephalopathy, 36
β˜…β˜†β˜†β˜†2022β†’ Residue 40
NM_001099922.3(ALG13):c.1438C>G (p.Leu480Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 480
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)Likely pathogenic
Developmental and epileptic encephalopathy, 36
β˜…β˜†β˜†β˜†2020β†’ Residue 107
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)Likely pathogenic
Congenital disorder of glycosylation|not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 17
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)Pathogenic
Neurodevelopmental delay|Developmental and epileptic encephalopathy, 36
β˜†β˜†β˜†β˜†2022β†’ Residue 1005
NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe)Likely pathogenic
Microcephaly
β˜†β˜†β˜†β˜†2021β†’ Residue 758
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)Pathogenic
Developmental and epileptic encephalopathy, 36
β˜†β˜†β˜†β˜†2012β†’ Residue 94
NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del)Likely pathogenic
Congenital disorder of glycosylation
β˜†β˜†β˜†β˜†β†’ Residue 69
View on ClinVar β†—
Related Genes
ALG5Shared pathway100%ALG9Shared pathway100%ALG10BShared pathway100%RFT1Shared pathway100%ALG10Shared pathway100%DPAGT1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
95%
Liver
92%
Lung
75%
Heart
70%
Brain
41%
Gene Interaction Network
Click a node to explore
ALG13ALG5ALG9ALG10BRFT1ALG10DPAGT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NP73
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.08–0.21]
RankingsWhere ALG13 stands among ~20K protein-coding genes
  • #6,781of 20,598
    Most Researched69
  • #2,768of 5,498
    Most Pathogenic Variants11
  • #492of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedALG13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo mutations in epileptic encephalopathies.
PMID: 23934111
Nature Β· 2013
1.00
2
X-Linked Epilepsies: A Narrative Review.
PMID: 38612920
Int J Mol Sci Β· 2024
0.90
3
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
PMID: 38703411
Mol Genet Metab Β· 2024
0.80
4
ALG13-Related Epilepsy: Current Insights and Future Research Directions.
PMID: 39673593
Neurochem Res Β· 2024
0.70
5
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology Β· 2022
0.60