MAN2C1 wt Allele

Preferred Label : MAN2C1 wt Allele;

NCIt synonyms : CDDG2; Mannosidase Alpha Class 2C Member 1 wt Allele; MAN6A8; Mannosidase, Alpha 6A8 Gene; Mannosidase, Alpha, Class 2C, Member 1 Gene; MANA; MANA1;

NCIt definition : Human MAN2C1 wild-type allele is located in the vicinity of 15q24.2 and is approximately 13 kb in length. This allele, which encodes alpha-mannosidase 2C1 protein, is involved in the degradation of free oligosaccharides. Mutation of the gene is associated with congenital disorder of deglycosylation 2.;

NCI Metathesaurus CUI : CL1926313;

GenBank Accession Number : AF044414;

Details

Origin ID

C204005;

UMLS CUI

C5890978;

OMIM relation
- Mannosidase, alpha, class 2c, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycoprotein Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients