NGLY1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NGLY1 wild-type allele is located in the vicinity of 3p24.2 and is approximately 71 kb in length. This allele, which encodes peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase protein, plays a role in the deglycosylation of denatured N-linked glycoproteins in the cytoplasm. Mutation of the gene is associated with congenital disorder of deglycosylation 1.

**Synonyms:** - CDDG - CDG1V - FLJ11005 - N-Glycanase 1 wt Allele - PNG-1 - PNG1 - PNGase - Peptide-N-Glycanase 1, S. cerevisiae, Homolog of Gene