NGLY1 Chromosome 3
N-glycanase 1
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What This Gene Does
This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Associated Conditions (13)
Congenital disorder of deglycosylation
Inborn genetic diseases
NGLY1-related disorder
Malignant tumor of esophagus
Congenital disorder of deglycosylation 1
Uterine corpus endometrial carcinoma
Intellectual disability
Abnormal brain morphology
Neurodevelopmental abnormality
Malignant tumor of urinary bladder
Neurodevelopmental delay
Peripheral neuropathy
Neuromotor delay
Key Variants
RS1252562045
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation
Health Risk
RS1261759648
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation
Health Risk
RS1337509224
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation
Health Risk
RS138477428
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, NGLY1-related disorder, Malignant tumor of esophagus
Health Risk
RS1429153517
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation
Health Risk
RS144144643
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation
Health Risk
RS1708515209
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
Health Risk
RS200608265
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
Health Risk
RS201904265
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
Health Risk
RS2125441274
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation
Health Risk
RS369598638
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, NGLY1-related disorder
Health Risk
RS370175393
Conflicting classifications of pathogenicity
Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754379411 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Inborn genetic diseases, Congenital disorder of deglycosylation |
| RS755653950 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS762131179 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS765145201 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS765211108 | Health Risk | Pathogenic | Intellectual disability, Peripheral neuropathy, Neuromotor delay |
| RS765889601 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital disorder of deglycosylation, Inborn genetic diseases |
| RS767388144 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS768131676 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1 |
| RS907852687 | Health Risk | Pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1470912253 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1487912297 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1553666033 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1 |
| RS1575612023 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS200561967 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS201337954 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS201791209 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Neurodevelopmental delay, Congenital disorder of deglycosylation |
| RS2125321733 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS2125442722 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1 |
| RS2125442902 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS532007026 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS755009745 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS757712371 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |
| RS772994617 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation |