CBS wt Allele - CISMeF

Preferred Label : CBS wt Allele;

NCIt synonyms : Cystathionine-Beta-Synthase wt Allele; HIP4;

NCIt definition : Human CBS wild-type allele is located in the vicinity of 21q22.3 and is approximately 24 kb in length. This allele, which encodes cystathionine beta-synthase protein, is involved in the detoxification of homocysteine and the synthesis of cysteine. Mutation of the gene is associated with cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria and an increase risk of thrombosis.;

NCI Metathesaurus CUI : CL512105;

GenBank Accession Number : L14577;

Details

Origin ID

C129050;

UMLS CUI

C4284732;

Automatic exact mappings (from CISMeF team)
- cystathionine beta-synthase [ORDO Gene]
OMIM relation
- Cystathionine beta-synthase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 21q22.3 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Catabolic Process [NCIt concept]
- Detoxification [NCIt concept]
- Iron Chelation [NCIt concept]

Keyword's position in hierarchy(ies) :

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