TPMT*V2 Allele

Preferred Label : TPMT*V2 Allele;

NCIt synonyms : TPMT-V2; TPMT V2 Allele;

NCIt definition : Human TPMT*V2 allele is a variant form of the TPMT Gene (TPMT Family), located at chromosome 6p22.3, which encodes Thiopurine S-Methyltransferase. Some TPMT alleles contain variable numbers of 17/18 bp tandem repeats (VNTR), 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). TPMT*V2 contains 2 VNTR. A decrease in gene expression is seen with increasing repeat numbers.;

Details

Origin ID

C46061;

UMLS CUI

C1710320;

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]

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