Literature summary for 2.1.1.67 extracted from

Kasirer, Y.; Mevorach, R.; Renbaum, P.; Algur, N.; Soiferman, D.; Beeri, R.; Rachman, Y.; Segel, R.; Turner, D.
Thiopurine S-methyltransferase (TPMT) activity is better determined by biochemical assay versus genotyping in the Jewish population (2014), Digest. Dis. Sci., 59, 1207-1212.

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Protein Variants

Protein Variants	Comment	Organism
A179G/G460A	the variant is associated with low enzyme activity	Homo sapiens
A719G	the variant is associated with low enzyme activity	Homo sapiens
G238C	the variant is associated with low enzyme activity	Homo sapiens
G460A	the variant is associated with low enzyme activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51580	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
erythrocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
S-adenosyl-L-methionine + 6-mercaptopurine	-	Homo sapiens	S-adenosyl-L-homocysteine + 6-methylmercaptopurine	-	?

Synonyms

Synonyms	Comment	Organism
thiopurine methyltransferase	-	Homo sapiens
TPMT	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	intermediate and low enzyme activity may lead to leukopenia following thiopurine treatment	Homo sapiens

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Release 2023.1 (January 2023)