MANBA wt Allele

Preferred Label : MANBA wt Allele;

NCIt synonyms : Mannosidase Beta wt Allele; Beta-Mannosidase A Gene; Mannosidase, Beta A, Lysosomal Gene; MANB1;

NCIt definition : Human MANBA wild-type allele is located in the vicinity of 4q24 and is approximately 130 kb in length. This allele, which encodes beta-mannosidase protein, is involved in exoglycosidase activity. Mutation of the gene is associated with beta-mannosidosis.;

NCI Metathesaurus CUI : CL1926447;

GenBank Accession Number : NM_005908;

Details

Origin ID

C203761;

UMLS CUI

C5891015;

OMIM relation
- Mannosidase, beta a, lysosomal [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]
- Lysosome Assembly 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) :

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