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: