Gene Symbol | NGLY1 |
Entrez Gene ID | 55768 |
Full Name | N-glycanase 1 |
Synonyms | CDDG,CDG1V,PNG1,PNGase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of deglycosylation, 615273 (3) |