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FLASH GENE
Symbol PBX1 contributors: Shn - updated : 20-01-2020
HGNC name pre-B-cell leukemia homeobox 1
HGNC id 8632
ASSOCIATED DISORDERS
corresponding disease(s) CAKUTHED
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
fused with TCF3 t(1;19) (q23;p13.3)in acute lymphoid leukemia
tumoral fusion      
with EWSR1 in (1;22)(q23;q12) in myoepithelioma
tumoral        
silencing decreased the expression of RUNX2 and OSTERIX, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation
constitutional       loss of function
results in persistent truncus arteriosus
tumoral   amplification    
in ESR1-positive breast cancer patients are characterized by poor survival
Susceptibility to bone mineral density variation
Variant & Polymorphism
Candidate gene
  • promising candidate gene for non-syndromic cleft lip/palate
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    targeting the USP9X/PBX1 axis could be a potential therapeutic strategy for managing advanced prostate cancer
    ANIMAL & CELL MODELS
  • Pbx1-deficient mice die at embryonic day 15/16 with severe hypoplasia or aplasia of multiple organs and widespread patterning defects of the axial and appendicular skeleton
  • Pbx-dependent EMT programs mediate murine upper lip/primary palate morphogenesis and fusion via regulation of Snail1
  • Pbx1-/- mouse embryos have pancreatic hypoplasia and marked defects in exocrine and endocrine cell differentiation prior to death at embryonic day (E) 15 or E16
  • Pbx1+/- adult mice have pancreatic islet malformations, impaired glucose tolerance and hypoinsulinemia
  • Silencing of PBX1 by RNAi in MC3T3-E1 cells decreased the expression of Runx2 and Osterix, the critical transcription factors for osteogenesis, but accelerated cell proliferation and bone nodule formation
  • tissue-specific deletion of Pbx1 in mice corneal epithelium results in corneal dystrophy