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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ALG10
ALG10 alpha-1,2-glucosyltransferase
Chromosome 12 · 12p11.1
NCBI Gene: 84920Ensembl: ENSG00000139133.7HGNC: HGNC:23162UniProt: Q5BKT4
20PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulumdolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activityprotein N-linked glycosylationresponse to xenobiotic stimulusgestational diabetesALG9-congenital disorder of glycosylationALG13-CDG
✦AI Summary

ALG10 encodes an alpha-1,2-glucosyltransferase that catalyzes the final step in the biosynthesis of dolichol-linked oligosaccharides, essential precursors for N-linked protein glycosylation 1. The enzyme specifically adds the third glucose residue to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol in the endoplasmic reticulum lumen 2. ALG10 plays a critical role in maintaining normal neurological function, as demonstrated by Drosophila models showing that Alg10 loss leads to altered neuronal firing, sleep disorders, seizures, and cardiovascular abnormalities 1. The gene has been associated with congenital disorders of glycosylation (CDG), with a human patient homozygous for variants in both ALG10 and ALG10B presenting with epilepsy, brain atrophy, and sleep abnormalities 1. In cancer research, ALG10 contributes to colorectal cancer stemness through a positive regulatory loop with TGF-β signaling, where ALG10 enhances TGFBR2 glycosylation while TGF-β promotes ALG10 expression 3. ALG10 also protects the cardiac HERG potassium channel from pharmacological block through its glucosyltransferase activity, potentially preventing drug-induced arrhythmias 2. Clinical significance includes associations with progressive myoclonus epilepsies, age-related hearing loss, and radiotherapy sensitivity in rectal cancer 456.

Sources cited
1
ALG10 encodes alpha-1,2-glucosyltransferase catalyzing final step of lipid-linked oligosaccharide biosynthesis and is essential for neurological function
PMID: 39711723
2
ALG10 protects HERG potassium channel from drug block through glucosyltransferase function
PMID: 17189275
3
ALG10 contributes to colorectal cancer stemness through positive regulatory loop with TGF-β signaling
PMID: 35680565
4
ALG10 variants associated with progressive myoclonus epilepsies in dolichol-dependent protein glycosylation pathway
PMID: 33798445
5
ALG10 methylation differences associated with age-related hearing loss
PMID: 36179964
6
ALG10 identified as hub gene associated with radiotherapy sensitivity in rectal cancer
PMID: 36879254
Disease Associationsⓘ20
response to xenobiotic stimulusOpen Targets
0.31Weak
gestational diabetesOpen Targets
0.29Weak
ALG13-CDGOpen Targets
0.27Weak
ALG9-congenital disorder of glycosylationOpen Targets
0.27Weak
developmental and epileptic encephalopathy, 36Open Targets
0.27Weak
smoking initiationOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.24Weak
ankylosing spondylitisOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.20Weak
HepatomegalyOpen Targets
0.20Weak
preeclampsiaOpen Targets
0.20Weak
Abruptio PlacentaeOpen Targets
0.20Weak
ovarian dysfunctionOpen Targets
0.19Weak
drug allergyOpen Targets
0.18Weak
deafnessOpen Targets
0.11Weak
hearing loss, autosomal recessiveOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.11Weak
musculoskeletal system diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
X-linked nonsyndromic hearing lossOpen Targets
0.07Suggestive
Pathogenic Variants2
NM_032834.4(ALG10):c.369+1G>TLikely pathogenic
ALG9 congenital disorder of glycosylation
★☆☆☆2025
NM_032834.4(ALG10):c.181A>G (p.Met61Val)Likely pathogenic
Developmental and epileptic encephalopathy, 36
★☆☆☆2025→ Residue 61
View on ClinVar ↗
Related Genes
DPAGT1Shared pathway100%ALG5Shared pathway100%ALG9Shared pathway100%ALG13Shared pathway100%ALG11Shared pathway100%ALG14Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Ovary
28%
Heart
25%
Liver
22%
Lung
22%
Gene Interaction Network
Click a node to explore
ALG10DPAGT1ALG5ALG9ALG13ALG11ALG14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5BKT4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.47–0.90]
RankingsWhere ALG10 stands among ~20K protein-coding genes
  • #14,097of 20,598
    Most Researched20
  • #4,553of 5,498
    Most Pathogenic Variants2
  • #8,154of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedALG10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of hub genes and potential molecular mechanisms related to radiotherapy sensitivity in rectal cancer based on multiple datasets.
PMID: 36879254
J Transl Med · 2023
1.00
2
A conserved role for ALG10/ALG10B and the
PMID: 39711723
medRxiv · 2024
0.90
3
A novel ALG10/TGF-β positive regulatory loop contributes to the stemness of colorectal cancer.
PMID: 35680565
Aging (Albany NY) · 2022
0.80
4
Strategy for a genetic assessment of antipsychotic and antidepressant-related proarrhythmia.
PMID: 18855674
Curr Med Chem · 2008
0.70
5
HERG is protected from pharmacological block by alpha-1,2-glucosyltransferase function.
PMID: 17189275
J Biol Chem · 2007
0.60