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FLASH GENE
Symbol TYMS contributors: mct/npt/pgu - updated : 25-08-2012
HGNC name thymidylate synthetase
HGNC id 12441
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
and overexpressed in esophageal squamous cell carcinoma
tumoral       gain of function
protect against the development of hepatocellular carcinoma
Susceptibility
  • to cardiovascular disease
  • to high red blood cell folate and homocysteine concentrations
  • to abdominal aortic aneurysm (Giusti 2008)
  • to gastric cancer
  • to childhood acute lymphoblastic leukemia (ALL)
  • to breast cancer
  • Variant & Polymorphism insertion/deletion
  • I/D polymorphism significantly associated to high red blood cell folate and homocysteine concentrations
  • 3G-del6 haplotype showed a significant association with the gastric cancer susceptibility
  • TSER polymorphism may increase susceptibility to breast cancer in the Caucasian population
  • TYMS 3R variant allele was significantly associated with a reduced risk of childhood ALL, represented by the sum of heterozygous and polymorphic homozygous genotypes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS