NGLY1

Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase is an is_associated_with::enzyme that in humans is encoded by the NGLY1 is_associated_with::gene.

Function
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 is_associated_with::aspartate residue. The encoded enzyme may play a role in the is_associated_with::proteasome-mediated degradation of misfolded is_associated_with::glycoproteins.

Clinical significance
In 2012, by means of is_associated_with::exome sequencing it was determined that a genetic mutation of the NGLY1 gene, resulting in inability to synthesise this enzyme, is the cause of an extremely rare is_associated_with::congenital disorder of glycosylation variant.

In 2014, a study of eight patients with mutations in the NGLY1 gene established a is_associated_with::phenotype for NGLY1 deficiency. NGLY1 deficiency is characterized by global developmental delay (often severe), neurological impairment, movement disorder and hypotonia. Almost all patients have difficulty producing tears and present abnormally on EEGs.

The site ngly1.org serves as a hub for N-Glycanase deficient patients. The Grace Wilsey Foundation has been established to raise awareness and support research.