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FLASH GENE
Symbol BCL2L1 contributors: mct/npt - updated : 29-09-2017
HGNC name BCL2-like 1
HGNC id 992
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional somatic mutation      
mutated in non-Hodgkin lymphoma
constitutional     --over  
increased expression and redistribution of BCLXL in Parkinson disease
constitutional     --other  
dysregulated expression in polycythemia vera, contributing to the pathogenesis of this disorder
tumoral fusion      
BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in Burkitt lymphoma
constitutional     --over  
increased expression, which is observed in many cancer cells, confers resistance to oxidative stress in the cancer cells by suppressing ROMO1-mediated oxidative stress (
constitutional     --low  
in SMA
Susceptibility
  • parkinson disease
  • non-Hodgkin lymphoma
  • polycythemia vera
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    potential target in SMA therapeutics
    ANIMAL & CELL MODELS
  • selective loss of these Bcl-xL-dependent neurons results in mice exhibiting severe neurobehavioral abnormalities, including self-injurious and risk-taking behaviors, hyperactivity, and learning and memory defects