BTD wt Allele - CISMeF

Preferred Label : BTD wt Allele;

NCIt synonyms : Biotinase Gene; Biotinidase wt Allele;

NCIt definition : Human BTD wild-type allele is located in the vicinity of 3p25.1 and is approximately 121 kb in length. This allele, which encodes biotinidase protein, is involved in the metabolism of biotin. Mutations in the gene are associated with biotinidase deficiency.;

NCI Metathesaurus CUI : CL1798986;

GenBank Accession Number : AF018631;

Details

Origin ID

C190312;

UMLS CUI

C5781380;

OMIM relation
- Biotinidase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Biotinidase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Biotin Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Metabolic Process [NCIt concept]
- Nervous System Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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