TPMT wt Allele

Preferred Label : TPMT wt Allele;

NCIt synonyms : TPMT*1; Thiopurine S-Methyltransferase wt Allele; TPMT, Wild-type; TPMT*1 Allele; TPMT Wild-type Allele; TPMT-1 Allele;

NCIt definition : Human TPMT wild-type allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, which encodes thiopurine S-methyltransferase protein, is involved in the S-methylation of thiopurine drugs. Certain allelic variants of the TPMT gene are associated with either decreased gene expression or reduced enzymatic activity of their corresponding protein products.;

NCIt note : Thiopurine S-methylation is an important metabolic pathway for thiopurine drugs such as 6-mercaptopurine. Both the tolerance and therapeutic efficacy of thiopurine drugs are altered in individuals who exhibit inherited defects in the TPMT gene. These changes in nucleotide sequence alter either gene expression or the catalytic activity of the encoded thiopurine S-methyltransferase enzyme. The catalytic activity of this enzyme varies among ethnic groups and is thought to be an important determinant of toxicity associated with thiopurine medications.;

GenBank Accession Number : NM_000367;

Details

Origin ID

C45688;

UMLS CUI

C1710316;

OMIM relation
- Thiopurine s-methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Thiopurine Methyltransferase Deficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
gene_plays_role_in_process
- Drug Metabolism [NCIt concept]
- Methylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

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