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FLASH GENE

Symbol

SPTBN1

contributors: mct - updated : 18-08-2012

HGNC name	spectrin, beta, non-erythrocytic 1
HGNC id	11275

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)