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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ALG11
ALG11 alpha-1,2-mannosyltransferase
Chromosome 13 Β· 13q14.3
NCBI Gene: 440138Ensembl: ENSG00000253710.5HGNC: HGNC:32456UniProt: Q2TAA5
27PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum membraneGDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activityprotein bindingmembraneALG11-congenital disorder of glycosylationcongenital disorder of glycosylationcongenital disorder of glycosylation type ISeizure
✦AI Summary

ALG11 encodes a GDP-mannose-dependent alpha-1,2-mannosyltransferase that catalyzes addition of the fourth and fifth mannose residues to dolichol-linked oligosaccharide precursors on the cytoplasmic face of the endoplasmic reticulum 1. This enzymatic step is essential for synthesizing the Man5GlcNAc2-PP-dolichol core oligosaccharide, which serves as substrate for downstream glycosylation enzymes and ultimately as the glycan donor for protein N-linked glycosylation 1. Mutations in ALG11 cause congenital disorder of glycosylation type 1p (ALG11-CDG), a rare autosomal recessive disorder characterized by hypoglycosylation of serum transferrin and other glycoproteins 2. Clinically, ALG11-CDG presents with severe multisystem involvement, including progressive neurological symptoms such as drug-resistant seizures, developmental delay, microcephaly, hypotonia, and deafness, accompanied by structural brain abnormalities including cerebral atrophy, hypomyelination, and corpus callosum hypoplasia 23. To date, fewer than 20 cases have been documented, though expanded genetic screening continues to identify novel pathogenic variants 4. Emerging therapeutic approaches using liposome-encapsulated mannose-1-phosphate show moderate promise in enhancing glycosylation in ALG11-CDG patient fibroblasts, though less dramatically than in other early-pathway CDG defects 5.

Sources cited
1
ALG11 catalyzes addition of terminal alpha-1,2-linked mannose residues to Man3GlcNAc2 and Man4GlcNAc2 intermediates on the cytosolic face of the ER to form Man5GlcNAc2-PP-dolichol
PMID: 11278778
2
ALG11-CDG is a rare autosomal recessive N-glycosylation defect presenting with neurological symptoms including epilepsy, developmental delay, microcephaly, hypotonia, and deafness; MRI shows progressive cerebral atrophy, hypomyelination, and corpus callosum hypoplasia
PMID: 36843332
3
ALG11-CDG patients present with severe psychomotor disabilities and epilepsy; fibroblasts show truncated precursor glycan structures and hypoglycosylation of GP130; some patients may have normal transferrin glycosylation
PMID: 30676690
4
ALG11-CDG variants cause decreased protein stability and hypoglycosylation; fewer than 17 documented cases show prominent phenotypes of seizures, developmental delay, and microcephaly
PMID: 39260222
5
Liposome-encapsulated mannose-1-phosphate treatment enhances high-mannose glycopeptides in ALG11-CDG fibroblasts, though less dramatically than in PMM2-CDG and ALG2-CDG
PMID: 38733638
Disease Associationsβ“˜21
ALG11-congenital disorder of glycosylationOpen Targets
0.81Strong
congenital disorder of glycosylationOpen Targets
0.40Weak
congenital disorder of glycosylation type IOpen Targets
0.37Weak
SeizureOpen Targets
0.34Weak
placenta praeviaOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
Wilson diseaseOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.06Suggestive
asthmaOpen Targets
0.02Suggestive
neuropathyOpen Targets
0.02Suggestive
optic neuritisOpen Targets
0.02Suggestive
frozen shoulderOpen Targets
0.02Suggestive
synovium disorderOpen Targets
0.02Suggestive
TendinopathyOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
graft versus host diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Down syndromeOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 1PUniProt
Pathogenic Variants17
NM_001004127.3(ALG11):c.45-2A>TLikely pathogenic
not provided|ALG11-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2026
NM_001004127.3(ALG11):c.1403G>A (p.Arg468His)Likely pathogenic
ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 468
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)Pathogenic
ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_001004127.3(ALG11):c.416T>G (p.Val139Gly)Pathogenic
Seizure
β˜…β˜†β˜†β˜†2024β†’ Residue 139
NM_001004127.3(ALG11):c.887del (p.Lys296fs)Pathogenic
ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 296
NM_001004127.3(ALG11):c.1A>G (p.Met1Val)Likely pathogenic
ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2019β†’ Residue 1
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)Likely pathogenic
not provided|ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2016β†’ Residue 408
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)Likely pathogenic
not provided|ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2016β†’ Residue 312
NM_001004127.3(ALG11):c.1402C>T (p.Arg468Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 468
NM_001004127.3(ALG11):c.1123_1126del (p.Asn375fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 375
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)Likely pathogenic
ALG11-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†β†’ Residue 395
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)Pathogenic
ALG11-congenital disorder of glycosylation|ALG11-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 279
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)Pathogenic
ALG11-congenital disorder of glycosylation|ALG11-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 208
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)Pathogenic
ALG11-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2012β†’ Residue 381
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)Pathogenic
ALG11-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2012β†’ Residue 318
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)Pathogenic
ALG11-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2010β†’ Residue 86
NM_001004127.3(ALG11):c.1307G>T (p.Gly436Val)Likely pathogenic
ALG11-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†β†’ Residue 436
View on ClinVar β†—
Related Genes
ALG9Shared pathway100%ALG10Shared pathway100%ALG10BShared pathway100%ALG13Protein interaction96%RFT1Protein interaction96%PMM2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
57%
Ovary
32%
Brain
31%
Lung
31%
Liver
30%
Gene Interaction Network
Click a node to explore
ALG11ALG9ALG10ALG10BALG13RFT1PMM2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2TAA5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.48–0.91]
RankingsWhere ALG11 stands among ~20K protein-coding genes
  • #12,502of 20,598
    Most Researched27
  • #2,364of 5,498
    Most Pathogenic Variants17
  • #8,264of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedALG11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ALG11-CDG: novel variant and review of the literature.
PMID: 36843332
J Pediatr Endocrinol Metab Β· 2023
1.00
2
PMID: 20301507
0.90
3
ALG11-CDG syndrome: Expanding the phenotype.
PMID: 30676690
Am J Med Genet A Β· 2019
0.80
4
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
PMID: 38733638
Mol Genet Metab Β· 2024
0.70
5
Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.
PMID: 39260222
Seizure Β· 2024
0.60