TYMS Chromosome 18
Thymidylate synthetase
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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
RS1703168604
Pathogenic
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS2046518776
Pathogenic
Dyskeratosis congenita, digenic, Dyskeratosis congenita
Health Risk
RS2144335544
Pathogenic
Dyskeratosis congenita, digenic, Dyskeratosis congenita
Health Risk
RS2144335824
Pathogenic
Dyskeratosis congenita, digenic, Dyskeratosis congenita
Health Risk
RS2144335968
Pathogenic
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
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 |