AGA wt Allele - CISMeF

Preferred Label : AGA wt Allele;

NCIt synonyms : AGU; Aspartylglucosaminidase wt Allele; GA; ASRG; Aspartylglucosylamine Deaspartylase Gene;

NCIt definition : Human AGA wild-type allele is located in the vicinity of 4q34.3 and is approximately 12 kb in length. This allele, which encodes N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase protein, is involved in the catabolism of glycoproteins in the lysosome. Mutations in the gene are associated with aspartylglucosaminuria.;

GenBank Accession Number : X55330;

Details

Origin ID

C213927;

OMIM relation
- Aspartylglucosaminidase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycoprotein Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Asparagine Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Post-Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients