NGLY1 wt Allele

Preferred Label : NGLY1 wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1926264;

GenBank Accession Number : AF250924;

Details

Origin ID

C203944;

UMLS CUI

C5891017;

OMIM relation
- N-glycanase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Post-Translational Regulation [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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