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FLASH GENE
Symbol PLCB1 contributors: mct - updated : 29-03-2016
HGNC name phospholipase C, beta 1 (phosphoinositide-specific)
HGNC id 15917
ASSOCIATED DISORDERS
corresponding disease(s) EIEE12
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cardiovascularrythm 
selective targeting of PLCbeta1b splice variant to the sarcolemma provides a potential therapeutic target to reduce hypertrophy, apoptosis, and arrhythmias.
cardiovascularvalvulopathy 
activation of PLCbeta1b is a possible therapeutic target to limit atrial remodelling in mitral valve disease patients
cardiovascularcardiomyopathy 
preventing PLCbeta1b association with the sarcolemma may provide a useful therapeutic target to limit hypertrophy
ANIMAL & CELL MODELS