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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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