HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ALG10B
ALG10 alpha-1,2-glucosyltransferase B
Chromosome 12 · 12q12
NCBI Gene: 144245Ensembl: ENSG00000175548.9HGNC: HGNC:31088UniProt: F8VXJ0
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranedolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activityprotein N-linked glycosylationdolichol-linked oligosaccharide biosynthetic processAbnormality of the skeletal systemDelayed pubertyrespiratory tract infectious disorderintestinal disease
✦AI Summary

ALG10B is an alpha-1,2-glucosyltransferase that catalyzes the final step of dolichol-linked oligosaccharide biosynthesis in the endoplasmic reticulum lumen, adding the third glucose residue to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol, a critical glycan precursor for protein N-linked glycosylation 1. This enzyme functions as an essential regulator of proper protein folding and trafficking, particularly for membrane proteins like HERG (Kv11.1) potassium channels 2. Clinically, ALG10B mutations cause multiple phenotypes reflecting N-glycosylation pathway disruption. A homozygous dual variant in ALG10/ALG10B produces congenital disorder of glycosylation-like features including epilepsy, brain atrophy, and sleep abnormalities 1. ALG10B missense mutations (p.G6S) cause long-QT syndrome by impairing HERG trafficking and channel function, resulting in prolonged cardiac action potentials and arrhythmia risk 2. Additionally, ALG10B mutations cause nonsyndromic hearing impairment through outer hair cell defects, indicating auditory system sensitivity to N-glycosylation perturbations 3. Genome-wide association studies link ALG10B variants to sleep duration, timing, and cardiac traits 1, suggesting broader roles in circadian regulation through GPR176 N-glycosylation 4. The glucosyltransferase activity protects HERG from drug-induced inhibition, explaining variable susceptibility to acquired long-QT syndrome 5.

Sources cited
1
ALG10B dual homozygous variants cause epilepsy, brain atrophy, sleep abnormalities; conserved role in N-glycosylation affecting neurological and cardiac homeostasis
PMID: 39711723
2
ALG10B p.G6S mutation causes long-QT syndrome by reducing protein expression, impairing HERG trafficking to plasma membrane, and prolonging cardiac action potential duration
PMID: 37071726
3
ALG10B associated with sleep duration, napping frequency, sleep timing, and cardiac traits in GWAS studies
PMID: 39711723
4
ALG10B mutations cause nonsyndromic hearing impairment through defects in outer hair cells
PMID: 24303013
5
ALG10B involved in N-glycosylation of GPR176 circadian receptor, linking to chronotype variation
PMID: 32709014
6
ALG10 glucosyltransferase function protects HERG from pharmacological block and acquired long-QT syndrome
PMID: 17189275
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.40Moderate
Delayed pubertyOpen Targets
0.33Weak
respiratory tract infectious disorderOpen Targets
0.29Weak
intestinal diseaseOpen Targets
0.29Weak
urinary bladder carcinomaOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.22Weak
amputationOpen Targets
0.20Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
hemorrhageOpen Targets
0.17Weak
inflammatory bowel diseaseOpen Targets
0.17Weak
spondylolisthesisOpen Targets
0.17Weak
liver diseaseOpen Targets
0.16Weak
gastric ulcerOpen Targets
0.15Weak
benign prostatic hyperplasiaOpen Targets
0.12Weak
deafnessOpen Targets
0.11Weak
hearing loss, autosomal recessiveOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.11Weak
primary thrombocytopeniaOpen Targets
0.10Suggestive
X-linked nonsyndromic hearing lossOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPAGT1Shared pathway100%ALG6Shared pathway100%ALG9Shared pathway100%ALG13Shared pathway100%RFT1Shared pathway100%ALG11Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
89%
Brain
75%
Heart
61%
Liver
55%
Lung
53%
Gene Interaction Network
Click a node to explore
ALG10BDPAGT1ALG6ALG9ALG13RFT1ALG11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5I7T1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.54–1.02]
RankingsWhere ALG10B stands among ~20K protein-coding genes
  • #14,630of 20,598
    Most Researched18
  • #9,975of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedALG10B
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
A conserved role for ALG10/ALG10B and the
PMID: 39711723
medRxiv · 2024
1.00
2
Elucidation of
PMID: 37071726
Circ Genom Precis Med · 2023
0.86
3
Time-Restricted G-Protein Signaling Pathways via GPR176, G
PMID: 32709014
Int J Mol Sci · 2020
0.71
4
HERG is protected from pharmacological block by alpha-1,2-glucosyltransferase function.
PMID: 17189275
J Biol Chem · 2007
0.57
5
The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines.
PMID: 14525949
FASEB J · 2003
0.43