NGLY1
| is a | gene |
| is | mentioned by |
| Full name | N-glycanase 1 |
| EntrezGene | 55768 |
| PheGenI | 55768 |
| VariationViewer | 55768 |
| ClinVar | NGLY1 |
| GeneCards | NGLY1 |
| dbSNP | 55768 |
| Diseases | NGLY1 |
| SADR | 55768 |
| HugeNav | 55768 |
| wikipedia | NGLY1 |
| NGLY1 | |
| gopubmed | NGLY1 |
| EVS | NGLY1 |
| HEFalMp | NGLY1 |
| MyGene2 | NGLY1 |
| 23andMe | NGLY1 |
| UniProt | Q96IV0 |
| Ensembl | ENSG00000151092 |
| OMIM | 610661 |
| # SNPs | 9 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1060499777 | 0 | 25,764,244 | |
| rs201337954 | 8 | 25,733,931 | |
| rs528583612 | 8 | 25,720,179 | |
| rs532007026 | 0 | 25,733,983 | |
| rs587776982 | 8 | 25,719,534 | |
| rs587777265 | 8 | 25,732,374 | |
| rs587777266 | 8 | 25,733,925 | |
| rs761634625 | 0 | 25,737,357 | |
| rs992161646 | 0 | 25,732,450 |
The N-glycanase 1 NGLY1 gene on chromosome 3 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.Wikipedia
NGLY1.org serves as a central repository of information on the disorder as well as a hub for patients. An article about variants in NGLY1 associated with rare developmental disorders has been published in the New Yorker, One of a Kind.
As a recessive condition, compound heterozygote or homozygous minor variants in the NGLY1 gene have been reported as the cause of congenital disorder of deglycosylation, a rare form of a congenital disorder of glycosylation. SNPs in SNPedia published as being pathogenic include:
