| GENE NAME | NGLY1 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000151092 |
| UNIPROT ACCESSION NUMBER | Q96IV0 |
| GO MOLECULAR FUNCTION | ['peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity', 'protein binding', 'metal ion binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa04141; R-HSA-392499; R-HSA-446203; R-HSA-532668; R-HSA-597592 |
| 1 combination linked to NGLY1 | OLI1569 |
| 1 variant linked to NGLY1 | NGLY1:c.731G>A, p.Trp244Ter |
| 1 disease linked to NGLY1 | Syndrome with 46,XY disorder of sex development |