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FLASH GENE
Symbol SETDB1 contributors: mct/pgu - updated : 17-01-2017
HGNC name SET domain, bifurcated 1
HGNC id 10761
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
markedly increased in Huntington's disease
tumoral   amplification    
focally amplified in non-small-cell lung cancer, small-cell lung cancer, ovarian cancer, hepatocellular carcinoma and breast cancer
tumoral     --over  
may potentially contribute to melanoma formation by abrogating oncogene-induced senescence
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyneurodegenerativehuntington chorea
regulation of the gene is important to neuronal survival and, as such, may be a promising treatment in HD patients
ANIMAL & CELL MODELS
  • Eset-deficient mice are thus characterized by defective long bone growth and trabecular bone formation