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FLASH GENE
Symbol SUPV3L1 contributors: mct/pgu - updated : 02-02-2013
HGNC name suppressor of var1, 3-like 1 (S. cerevisiae)
HGNC id 11471
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
exhibited an up-regulation of TP53, mediating activation of CDKN1A, which has been shown to be the major regulator of the cellular senescence program
constitutional       loss of function
leads to accelerated aging-like phenotypes
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancer  
maintaining mtDNA integrity by SUPV3L1 helicase is critical for cancer suppression
ANIMAL & CELL MODELS
  • disruption of the Supv3L1 gene in the mouse has been reported to be embryonic lethal at early developmental stages
  • Suv3+/- mice harbored increased mitochondrial DNA (mtDNA) mutations and decreased mtDNA copy numbers, leading to tumor development in various sites and shortened lifespan