MAN2B1 wt Allele

Preferred Label : MAN2B1 wt Allele;

NCIt synonyms : Mannosidase Alpha Class 2B Member 1 wt Allele; Mannosidase, Alpha, Class 2B, Member 1 Gene; Mannosidase, Alpha B, Lysosomal Gene; LAMAN; MANB;

NCIt definition : Human MAN2B1 wild-type allele is located in the vicinity of 19p13.13 and is approximately 20 kb in length. This allele, which encodes lysosomal alpha-mannosidase protein, plays a role in alpha-mannosidase activity. Mutation of the gene is associated with alpha-mannosidosis types 1 and 2.;

NCI Metathesaurus CUI : CL1926450;

GenBank Accession Number : NM_000528;

Details

Origin ID

C203757;

UMLS CUI

C5891014;

OMIM relation
- Mannosidase, alpha, class 2b, 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]
- 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) :

You can consult :

recommendations
documents concerning education
documents for patients