NCIt definition : TPMT*V4 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*V4 contains 4 VNTR. TPMT activity is thought
to be an important determinant of toxicity associated with thiopurine medications.;