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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NGLY1
N-glycanase 1
Chromosome 3 Β· 3p24.2
NCBI Gene: 55768Ensembl: ENSG00000151092.19HGNC: HGNC:17646UniProt: Q96IV0
79PubMed Papers
21Diseases
0Drugs
128Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activityprotein bindingcytoplasmglycoprotein catabolic processcongenital disorder of deglycosylation 1congenital disorder of deglycosylationAlacrimia-choreoathetosis-liver dysfunction syndromegenetic disorder
✦AI Summary

NGLY1 (N-glycanase 1) is a cytosolic deglycosylating enzyme that removes N-linked glycans from misfolded glycoproteins destined for proteasomal degradation 1. Mechanistically, NGLY1 cleaves the beta-aspartyl-glucosamine linkage between N-glycans and asparagine residues, converting asparagine to aspartate and enabling subsequent proteasome-mediated degradation through endoplasmic reticulum-associated degradation (ERAD) 12. Beyond canonical deglycosylation, NGLY1 functions as an 'editing enzyme' that modulates target protein function by introducing negative charges through asparagine-to-aspartate conversion 1. NGLY1 also regulates the transcription factor NFE2L1, which controls proteasomal gene expression and oxidative stress responses 32. Biallelic NGLY1 mutations cause congenital disorder of deglycosylation 1 (CDDG1), a rare autosomal recessive disorder affecting over 100 individuals with >70 distinct pathogenic variants 2. Patients exhibit multisystemic features including global developmental delay, microcephaly, peripheral neuropathy, hypotonia, hypolacrima/alacrima, hypertransaminasemia, and feeding difficulty 24. NGLY1 deficiency impairs proteasomal gene expression and alters ribosome biogenesis pathways 5. Currently, no approved therapy exists for NGLY1 deficiency, though FDA-approved drug repurposing screens have identified potential candidates to ameliorate disease phenotypes 6.

Sources cited
1
NGLY1 deglycosylates misfolded N-glycoproteins in ERAD and functions as an editing enzyme converting N-glycosylated asparagine to aspartate
PMID: 34969094
2
NGLY1 deficiency is caused by biallelic mutations, affects >100 patients with >70 variants, causes multisystemic features including developmental delay, neuropathy, alacrimia, and hypertransaminasemia; regulates NFE2L1 and proteasomal gene expression
PMID: 40730667
3
NGLY1-mediated N-glycan removal from Nrf1 is required for its DDI2-dependent activation and proteasomal gene transcription
PMID: 39116872
4
NGLY1 deficiency causes downregulation of proteasomal genes and upregulation of ribosome biogenesis genes in patient-derived cells
PMID: 34878535
5
NGLY1-CDDG patients present with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, feeding difficulty, and novel cutaneous features
PMID: 31965062
6
Drosophila NGLY1 homolog loss causes developmental delay and lethality; FDA-approved drug screens identify potential therapeutic candidates
PMID: 34270726
Disease Associationsβ“˜21
congenital disorder of deglycosylation 1Open Targets
0.79Strong
congenital disorder of deglycosylationOpen Targets
0.75Strong
Alacrimia-choreoathetosis-liver dysfunction syndromeOpen Targets
0.73Strong
genetic disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.46Moderate
Neurodevelopmental delayOpen Targets
0.43Moderate
Alzheimer diseaseOpen Targets
0.38Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
Abnormal brain morphologyOpen Targets
0.27Weak
peripheral neuropathyOpen Targets
0.26Weak
Neurodevelopmental abnormalityOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.22Weak
DNA methylationOpen Targets
0.22Weak
insomniaOpen Targets
0.21Weak
bronchial diseaseOpen Targets
0.19Weak
Global developmental delayOpen Targets
0.12Weak
IMAGe syndromeOpen Targets
0.11Weak
Congenital disorder of deglycosylation 1UniProt
Pathogenic Variants128
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1|Epilepsy
β˜…β˜…β˜†β˜†2026β†’ Residue 401
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Inborn genetic diseases|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2026β†’ Residue 411
NM_018297.4(NGLY1):c.658+1G>ALikely pathogenic
Congenital disorder of deglycosylation|not provided
β˜…β˜…β˜†β˜†2026
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)Pathogenic
Congenital disorder of deglycosylation|Neurodevelopmental delay|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 311
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)Pathogenic
not provided|Inborn genetic diseases|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2026β†’ Residue 469
NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 191
NM_018297.4(NGLY1):c.953T>C (p.Leu318Pro)Likely pathogenic
Congenital disorder of deglycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 318
NM_018297.4(NGLY1):c.1150-1G>CPathogenic
not provided|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 342
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)Likely pathogenic
Neurodevelopmental abnormality|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 328
NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 291
NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter)Pathogenic
not provided|Congenital disorder of deglycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 321
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)Pathogenic
Intellectual disability;Peripheral neuropathy;Neuromotor delay|Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 511
NM_018297.4(NGLY1):c.904_905del (p.Leu302fs)Pathogenic
Congenital disorder of deglycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 631
NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)Pathogenic
Congenital disorder of deglycosylation|not provided|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2025β†’ Residue 542
NM_018297.4(NGLY1):c.1570dup (p.Met524fs)Pathogenic
not provided|Congenital disorder of deglycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 524
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)Pathogenic
Inborn genetic diseases|Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2024β†’ Residue 586
NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2024β†’ Residue 575
NM_018297.4(NGLY1):c.177del (p.Ala60fs)Pathogenic
Congenital disorder of deglycosylation|Congenital disorder of deglycosylation 1
β˜…β˜…β˜†β˜†2024β†’ Residue 60
View on ClinVar β†—
Related Genes
AMFRProtein interaction91%VCPProtein interaction91%UBXN1Protein interaction91%DERL1Protein interaction91%UBXN2BProtein interaction88%RAD23AProtein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
68%
Heart
62%
Lung
58%
Ovary
42%
Brain
31%
Gene Interaction Network
Click a node to explore
NGLY1AMFRVCPUBXN1DERL1UBXN2BRAD23A
PROTEIN STRUCTURE
Preparing viewer…
PDB2CCQ Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.66–1.01]
RankingsWhere NGLY1 stands among ~20K protein-coding genes
  • #6,014of 20,598
    Most Researched79
  • #607of 5,498
    Most Pathogenic Variants128 Β· top quartile
  • #9,789of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedNGLY1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Sugar-mediated non-canonical ubiquitination impairs Nrf1/NFE2L1 activation.
PMID: 39116872
Mol Cell Β· 2024
1.00
2
Ever-expanding NGLY1 biology.
PMID: 34969094
J Biochem Β· 2022
0.90
3
Patient-derived gene and protein expression signatures of NGLY1 deficiency.
PMID: 34878535
J Biochem Β· 2022
0.80
4
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
PMID: 35045343
Am J Hum Genet Β· 2022
0.70
5
NGLY1 deficiency - clinical features and therapeutic strategy.
PMID: 40730667
J Hum Genet Β· 2025
0.60