Distribution of ITPA P32T alleles in multiple world populations
نویسندگان
چکیده
منابع مشابه
Functional study of the P32T ITPA variant associated with drug sensitivity in humans.
Sanitization of the cellular nucleotide pools from mutagenic base analogues is necessary for the accuracy of transcription and replication of genetic material and plays a substantial role in cancer prevention. The undesirable mutagenic, recombinogenic, and toxic incorporation of purine base analogues [i.e., ITP, dITP, XTP, dXTP, or 6-hydroxylaminopurine (HAP) deoxynucleoside triphosphate] into ...
متن کاملThe human ITPA polymorphic variant P32T is destabilized by the unpacking of the hydrophobic core.
Inosine triphosphate pyrophosphatase (ITPA), a key enzyme involved in maintaining the purity of cellular nucleoside triphosphate pools, specifically recognizes inosine triphosphate and xanthosine triphosphate (including the deoxyribose forms) and detoxifies them by catalyzing the hydrolysis of a phosphoanhydride bond, releasing pyrophosphate. This prevents their inappropriate use as substrates ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2004
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-004-0183-y