Symbol
| SUPV3L1
| contributors: mct/pgu - updated : 02-02-2013
|
HGNC name
| suppressor of var1, 3-like 1 (S. cerevisiae)
|
HGNC id
| 11471
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Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
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|  
| --low
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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
|  
|  
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| loss of function
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leads to accelerated aging-like phenotypes  | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | | |  |
maintaining mtDNA integrity by SUPV3L1 helicase is critical for cancer suppression |
| | | |
| 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  |
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