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FLASH GENE
Symbol PRKD1 contributors: mct/ - updated : 15-06-2016
HGNC name protein kinase D1
HGNC id 9407
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
PRKD1 activation impicated in the pathogenesis of cardiac hypertrophy and the evolution of heart failure syndromes
constitutional   deletion    
in Rett syndrome variant. probably with misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1
tumoral     --low  
aberrantly methylated and silenced in its expression in invasive breast cancer cells and during breast tumor progression, increasing with the aggressiveness of tumors
Susceptibility to muscular fatigue
Variant & Polymorphism other genetic deletion in type I myofibers increases susceptibility to fatigue
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerreproductivebreast
targeted upregulation of PKD1 expression may be used as a therapeutic approach to reverse the invasive phenotype of breast cancer cells
ANIMAL & CELL MODELS