TYMS Chromosome 18

Thymidylate synthetase
5 variants 5 Health Risk

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What This Gene Does
Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]
Associated Conditions (2)
Dyskeratosis congenita
digenic
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS1703168604 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2046518776 Health Risk Pathogenic Dyskeratosis congenita, digenic, Dyskeratosis congenita
RS2144335544 Health Risk Pathogenic Dyskeratosis congenita, digenic, Dyskeratosis congenita
RS2144335824 Health Risk Pathogenic Dyskeratosis congenita, digenic, Dyskeratosis congenita
RS2144335968 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
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