MMAB wt Allele

Preferred Label : MMAB wt Allele;

NCIt synonyms : CFAP23; cblB; cob; ATR; Methylmalonic Aciduria (Cobalamin Deficiency) Type B Gene; Methylmalonic Aciduria (Cobalamin Deficiency) cblB Type Gene; Metabolism of Cobalamin Associated B wt Allele; Cilia and Flagella Associated Protein 23 Gene; Aquocob(I)Alamin Vitamin B12s Adenosyltransferase Gene;

NCIt definition : Human MMAB wild-type allele is located in the vicinity of 12q24.11 and is approximately 20 kb in length. This allele, which encodes corrinoid adenosyltransferase MMAB protein, is involved in the synthesis of adenosylcobalamin from cobalamin. Mutation of the gene is associated with vitamin B12-responsive methylmalonic aciduria cblB type.;

NCI Metathesaurus CUI : CL1926460;

GenBank Accession Number : AF550404;

Details

Origin ID

C203793;

UMLS CUI

C5890834;

OMIM relation
- Metabolism of cobalamin associated b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.11 [NCIt concept]
gene_is_element_in_pathway
- Cofactors and Vitamins Metabolism Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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