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FLASH GENE
Symbol DDB2 contributors: mct - updated : 04-12-2017
HGNC name damage-specific DNA binding protein 2, 48kDa
HGNC id 2718
ASSOCIATED DISORDERS
corresponding disease(s) XPE
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
in xeroderma pigmentosum, type E
Susceptibility to progressive supranuclear palsy (PSP)
Variant & Polymorphism SNP increasing the risk of progressive supranuclear palsy (PSP)
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerreproductiveprostate
may be a potential regimen for prostate cancer treatment, especially in androgen-refractory patients harboring high amount of AR who cannot be cured by androgen ablation
ANIMAL & CELL MODELS
  • DDB2/ mice are susceptible to UV-induced skin carcinogenesis
  • mice genetically deficient in Ddb2 exhibited increased susceptibility to colon tumor development in a manner associated with higher abundance of the Wnt receptor-expressing cells and greater activation of the downstream Wnt pathway