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FLASH GENE
Symbol BAX contributors: mct/shn - updated : 26-05-2016
HGNC name BCL2-associated X protein
HGNC id 959
ASSOCIATED DISORDERS
corresponding disease(s)
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
partial deletion exon 1(isoform BAXpsi) in glioblastoma multiforme (with increased survival)
tumoral     --low  
reduced expression is a poor prognosis factor in various carcinomas including breast cancer
Susceptibility
  • breast cancer and glioblastoma multiforme
  • to osteomyelitis
  • Variant & Polymorphism other substitution of a nucleotide G-->A at position -248 in more frequent in patients with osteomyelitis and was associated with a longer lifespan of their peripheral blood neutrophils and lower BAX expression
    Candidate gene
    Marker
    Therapy target BAX activation site has important implications for the development of pharmacological agents to respectively activate or inhibit apoptosis in human diseases
    ANIMAL & CELL MODELS
  • Bax knockout mouse display lineage-specific aberrations in cell death, hyperplasia of thymocytes and B cells and ovaries contain unusual atretic follicles with excess granulosa cells (
  • mice deficient for Bax show only relatively mild abnormalities, including minor splenomegaly and male infertility
  • neonatal sympathetic neurons and facial motor neurons from Bax-deficient mice survived nerve growth factor deprivation and disconnection display remarkable soma atrophy and reduced elaboration of neurities (
  • mice nullizygous for both Bax and Atm showed additional reduction in ionizing radiation-induced apoptosis in the central nervous system (
  • bax(-/-)bak(-/-)mice died perinatally with fewer than 10% surviving into adulthood displaying multiple developmental defects, including persistence of interdigital webs, an imperforate vaginal canal, and accumulation of excess cells within both the central nervous and hematopoietic systems (
  • mouse embryonic fibroblasts deficient for BAX and BAK have a reduced resting concentration of calcium in the endoplasmic reticulum (
  • BAX- and BAK-deficient B cells display defective cell cycle progression to B cell receptor crosslinking and lipopolysaccharide (
  • in the T cell-specific BaxBak-deficient mice, early T-cell progenitors accumulate in the thymus, with relative depletion of more mature T cells