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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Chromosome 1 · 1p34.1
NCBI Gene: 55624Ensembl: ENSG00000085998.15HGNC: HGNC:19139UniProt: A0A8I5KNB7
72PubMed Papers
24Diseases
0Drugs
261Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneprotein bindingacetylglucosaminyltransferase activitymanganese ion bindingmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3autosomal recessive limb-girdle muscular dystrophy type 2Omuscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3retinitis pigmentosa 76
✦AI Summary

POMGNT1 is a Golgi glycosyltransferase that catalyzes the addition of N-acetylglucosamine (GlcNAc) to O-linked mannose residues on glycoproteins, specifically synthesizing the GlcNAc(β1-2)Man(α1-)O-Ser/Thr moiety on α-dystroglycan and other O-mannosylated substrates 1. This enzymatic activity provides the structural foundation for subsequent carbohydrate modifications on glycoproteins 2. POMGNT1 localizes to the Golgi membrane and is expressed particularly in astrocytes and immature neurons, where it functions in basement membrane formation at the glia limitans 3. POMGNT1 mutations cause a spectrum of muscular dystrophy-dystroglycanopathies characterized by deficient α-dystroglycan glycosylation. These include congenital disorders with severe phenotypes affecting both central and peripheral nervous systems 4. In dystroglycanopathy cohorts, POMGNT1 mutations are associated with more severe clinical presentations compared to other causative genes 4. Congenital manifestations include lissencephaly, eye anomalies, and developmental delay 35. Beyond inherited dystrophies, POMGNT1 expression correlates with glioblastoma grade and progression, where elevated levels predict poor prognosis and promote tumor growth through EGFR/β-catenin pathway activation 6. Prenatal diagnostic applications have identified POMGNT1 variants in cases of congenital hydrocephalus 7.

Sources cited
1
POMGNT1 catalyzes addition of N-acetylglucosamine to O-linked mannose on glycoproteins
PMID: 11709191
2
POMGNT1 catalyzes synthesis of GlcNAc(β1-2)Man moiety providing basis for further carbohydrate additions
PMID: 27493216
3
POMGNT1 expressed in astrocytes and immature neurons; involved in α-dystroglycan glycosylation and glia limitans basement membrane formation
PMID: 15614444
4
POMGNT1 mutations associated with more severe dystroglycanopathy phenotypes in Chinese patient cohort
PMID: 33200426
5
POMGNT1 mutations cause Muscle-Eye-Brain disease with congenital muscular dystrophy, brain malformations, and eye anomalies
PMID: 20215985
6
POMGNT1 expression correlates with glioblastoma grade and poor prognosis; promotes tumor growth via EGFR/β-catenin signaling
PMID: 25085363
7
POMGNT1 compound variants identified in fetuses with congenital hydrocephalus
PMID: 35843586
Disease Associationsⓘ24
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3Open Targets
0.83Strong
autosomal recessive limb-girdle muscular dystrophy type 2OOpen Targets
0.80Strong
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3Open Targets
0.80Strong
retinitis pigmentosa 76Open Targets
0.77Strong
muscular dystrophy-dystroglycanopathy, type AOpen Targets
0.67Moderate
muscle-eye-brain diseaseOpen Targets
0.65Moderate
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.62Moderate
myopathy caused by variation in POMGNT1Open Targets
0.58Moderate
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesOpen Targets
0.57Moderate
muscular dystrophy-dystroglycanopathyOpen Targets
0.56Moderate
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2Open Targets
0.55Moderate
Retinal dystrophyOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.49Moderate
retinitis pigmentosaOpen Targets
0.42Moderate
Abnormality of the nervous systemOpen Targets
0.41Moderate
limb-girdle muscular dystrophyOpen Targets
0.40Weak
congenital muscular dystrophy with cerebellar involvementOpen Targets
0.38Weak
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycanOpen Targets
0.37Weak
HydrocephalusOpen Targets
0.34Weak
joint diseaseOpen Targets
0.28Weak
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3UniProt
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C3UniProt
Retinitis pigmentosa 76UniProt
Pathogenic Variants261
NM_017739.4(POMGNT1):c.1284+2_1284+19delLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
★★☆☆2026
NM_017739.4(POMGNT1):c.1539+1G>APathogenic
Muscle eye brain disease|not provided|POMGNT1-related disorder|Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscle eye brain disease;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Myopathy caused by variation in POMGNT1|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Retinal dystrophy|Malignant tumor of esophagus|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Cervical cancer|Autosomal recessive POMGNT1-related disorders
★★☆☆2026
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Muscle eye brain disease
★★☆☆2026→ Residue 442
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy
★★☆☆2026→ Residue 88
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)Pathogenic
Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76
★★☆☆2025→ Residue 215
NM_017739.4(POMGNT1):c.1249dup (p.Asp417fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease
★★☆☆2025→ Residue 417
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy|POMGNT1-related disorder|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
★★☆☆2025→ Residue 490
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy
★★☆☆2025→ Residue 212
NM_017739.4(POMGNT1):c.652+1G>TPathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscle eye brain disease|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76;Autosomal recessive limb-girdle muscular dystrophy type 2O
★★☆☆2025
NM_017739.4(POMGNT1):c.1895+1G>APathogenic
Muscle eye brain disease|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy|not provided
★★☆☆2025
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)Pathogenic
Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy
★★☆☆2025→ Residue 626
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)Pathogenic
Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|not provided
★★☆☆2025→ Residue 580
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 488
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
★★☆☆2025→ Residue 206
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)Pathogenic
not provided|Retinitis pigmentosa 76|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Muscular dystrophy-dystroglycanopathy|Autosomal recessive limb-girdle muscular dystrophy|Retinal dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76
★★☆☆2025→ Residue 442
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)Pathogenic
Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Retinitis pigmentosa 76
★★☆☆2025→ Residue 311
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)Pathogenic
Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|not provided
★★☆☆2025→ Residue 590
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy
★★☆☆2025→ Residue 516
NM_017739.4(POMGNT1):c.880-1G>APathogenic
Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|POMGNT1-related disorder
★★☆☆2025
NM_017739.4(POMGNT1):c.880-1G>CPathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinal dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3;Autosomal recessive limb-girdle muscular dystrophy type 2O;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3;Retinitis pigmentosa 76|Muscle eye brain disease
★★☆☆2025
View on ClinVar ↗
Related Genes
LAMA2Protein interaction99%SGCAProtein interaction99%SGCBProtein interaction99%DPM1Protein interaction99%DPM2Protein interaction99%NRXN2Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Liver
50%
Ovary
33%
Brain
31%
Lung
28%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
POMGNT1LAMA2SGCASGCBDPM1DPM2NRXN2
PROTEIN STRUCTURE
Preparing viewer…
PDB5GGN · 1.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.55–0.81]
RankingsWhere POMGNT1 stands among ~20K protein-coding genes
  • #6,578of 20,598
    Most Researched72
  • #246of 5,498
    Most Pathogenic Variants261 · top 5%
  • #6,877of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedPOMGNT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20301590
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
PMID: 33200426
Clin Genet · 2021
0.80
4
Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.
PMID: 15614444
Med Electron Microsc · 2004
0.70
5
Muscle-Eye-Brain disease.
PMID: 20215985
J Clin Neuromuscul Dis · 2010
0.60