CD320 wt Allele

Preferred Label : CD320 wt Allele;

NCIt synonyms : CD320 Molecule wt Allele; 8D6A; CD320 Antigen Gene; TCBLR; TCN2R; 8D6;

NCIt definition : Human CD320 wild-type allele is located in the vicinity of 19p13.2 and is approximately 6 kb in length. This allele, which encodes CD320 antigen protein, plays a role in cobalamin uptake, B-cell proliferation and immunoglobulin secretion. Mutation of the gene is associated with methylmalonic acidemia, TCblR type.;

NCI Metathesaurus CUI : CL1914082;

GenBank Accession Number : AF161254;

Details

Origin ID

C198540;

UMLS CUI

C5780737;

OMIM relation
- Cd320 antigen [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.2 [NCIt concept]
gene_plays_role_in_process
- B Cell Proliferation [NCIt concept]
- B-Cell Differentiation [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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