TPMT*V3 Allele

Preferred Label : TPMT*V3 Allele;

NCIt synonyms : TPMT-V3; TPMT V3 Allele;

NCIt definition : TPMT*V3 Allele is a variant form of 34-kb 10-exon human TPMT Gene (TPMT Family), which encodes polymorphic monomeric 245-aa 28-kDa cytoplasmic Thiopurine S-Methyltransferase. Inhibited by S-adenosyl-L-homocysteine, TPMT catalyzes thiopurine S-methylation, an important metabolic pathway for thiopurine drugs such as 6-mercaptopurine. TPMT contains a variable number of 17/18 bp tandem repeats (VNTR), from 3-9 (*V3-*V9), within the GC-rich 5'-flanking TPMT promoter region that modulate the level of TPMT enzyme activity (to a smaller extent than ORF-based SNP effects). A decrease in gene expression is seen with increasing repeat numbers. TPMT*V3 contains 3 VNTR. TPMT activity is thought to be an important determinant of toxicity associated with thiopurine medications.;

Details

Origin ID

C45796;

UMLS CUI

C1710321;

OMIM relation
- Thiopurine s-methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Tandem Repeat Variation [NCIt concept]
allele_in_chromosomal_location
- 6p22.3 [NCIt concept]
gene_associated_with_disease
- Thiopurine Methyltransferase Deficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Drug Metabolism [NCIt concept]
- Methylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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