About: TPMT*V3 Allele     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • TPMT*V3 Allele
rdfs:subClassOf
OMIM_Number
  • 187680
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TPMT*V3 Allele
UMLS_CUI
  • C1710321
Legacy_Concept_Name
  • TPMT_V3_Allele
FULL_SYN
  • TPMT*V3 AllelePTNCI
  • TPMT-V3SYNCI
Gene_Encodes_Product
  • Thiopurine S-Methyltransferase
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.NCI
code
  • C45796
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