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FLASH GENE
Symbol TOPBP1 contributors: mct/ - updated : 29-04-2014
HGNC name topoisomerase (DNA) II binding protein 1
HGNC id 17008
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
upregulates TP53 target genes involved in cell cycle arrest and apoptosis and enhances DNA damage-induced apoptosis
constitutional        
up-regulates TP53 target genes involved in cell cycle arrest and apoptosis, thereby inducing DNA damage-induced apoptosis because interaction of TOPBP1 with the TP53 DNA binding domain inhibits the binding of TP53 to the promoters
Susceptibility to familial breast and ovarian cancer
Variant & Polymorphism other polymorphisms increasing the risk of breast and ovarian cancer
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS