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Article

Characterization of a novel sequence variant, TPMT*28, in the human thiopurine methyltransferase gene.

Pharmacogenetics and genomics - 1 Nov 2010

Appell Malin Lindqvist, Wennerstrand Patricia, Peterson Curt, Hertervig Erik, Mårtensson Lars-Göran

Abstract excerpt

BACKGROUND: The activity of the human enzyme thiopurine methyltransferase (TPMT) varies greatly between individuals because of genetic polymorphism. TPMT is involved in the detoxification and activation of thiopurines such as 6-mercaptopurine, 6-thioguanine, and azathioprine. These drugs are used in the treatment of acute lymphoblastic leukemia and inflammatory bowel disease. A total of 29 sequence variants have...

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Source

Identifiers

PMID: 20881512
DOI: 10.1097/FPC.0b013e3283402ee4

Genes

TPMT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Characterization of a novel sequence variant, TPMT*28, in the human thiopurine methyltransferase gene.PMID 20881512Read ↗

Characterisation of novel defective thiopurine S-methyltransferase allelic variants.Semantic proximity Read ↗

Nomenclature for alleles of the thiopurine methyltransferase gene.Semantic proximity Read ↗

Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity.Semantic proximity Read ↗

Identification of a novel thiopurine S-methyltransferase allele (TPMT*37).Semantic proximity Read ↗

Structural basis of allele variation of human thiopurine-S-methyltransferase.Semantic proximity Read ↗

Detection of a novel single nucleotide polymorphism of the human thiopurine s-methyltransferase gene in a Chinese individual.Semantic proximity Read ↗

Structural characteristics determine the cause of the low enzyme activity of two thiopurine S-methyltransferase allelic variants: a biophysical characterization of TPMT*2 and TPMT*5.Semantic proximity Read ↗

Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.Semantic proximity Read ↗

One amino acid makes a difference-Characterization of a new TPMT allele and the influence of SAM on TPMT stability.Semantic proximity Read ↗

Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia.Semantic proximity Read ↗

A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase.Semantic proximity Read ↗

Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.Semantic proximity Read ↗

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