AHCY wt Allele

Preferred Label : AHCY wt Allele;

NCIt synonyms : adoHcyase; SAHH; Adenosylhomocysteinase wt Allele;

NCIt definition : Human AHCY wild-type allele is located in the vicinity of 20q11.22 and is approximately 32 kb in length. This allele, which encodes adenosylhomocysteinase protein, is involved in the metabolism of amino acids. Mutation of the gene is associated with hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.;

GenBank Accession Number : M61832;

Details

Origin ID

C104864;

UMLS CUI

C3541917;

OMIM relation
- S-adenosylhomocysteine hydrolase [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
- 20q11.22 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- One Carbon Pool by Folate Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Hydrolysis [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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