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FLASH GENE
Symbol SPTBN1 contributors: mct - updated : 18-08-2012
HGNC name spectrin, beta, non-erythrocytic 1
HGNC id 11275
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in pancreatic cancer tissues, and reduced SPTBN1 expression correlated with shorter survival of pancreatic cancer patients
constitutional        
epigenetic silencing is a new potential causal factor in human BWS patients
tumoral fusion      
to the platelet-derived growth factor receptor beta gene (PDGFRB) in imatinib-responsive atypical myeloproliferative disorders
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • beta2SP(+/-) mice are born with many phenotypic characteristics observed in BWS patients, suggesting that beta2SP mutant mice phenocopy BWS, and beta2SP loss could be one of the mechanisms associated with BWS (Beckwith-Wiedemann syndrome)