DISEASES

Disease-gene associations mined from literature

Literature associating NGLY1 and blepharitis

NGLY1 [ENSP00000280700]

Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; Specifically deglycosylates the denatured form of N- linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl- glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high- mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.

Synonyms:  NGLY1,  NGLY1p,  hNGLY1,  C9JU75,  Q96IV0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM