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FLASH GENE

Symbol

PLN

contributors: mct/npt - updated : 17-04-2016

HGNC name	phospholamban
HGNC id	9080

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1P

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in tetralogy of Fallot (Vittorini 2007) constitutional germinal mutation       cause of inherited dilated cardiomyopathy with refractory congestive heart failure constitutional     --low   results in cardiac hypertrophy and decreased cardiac contractility

Susceptibility

to familial hypertrophic cardiomyopathy

Variant & Polymorphism	truncation mutation in the PLN gene (Leu39Ter) associated to familial hypertrophic cardiomyopathy (Chiu 2007)

Candidate gene	may be responsible for cardiomyopathy
Marker
Therapy target

ANIMAL & CELL MODELS

Pln-KO protected RyR2-R4496C mutant mice from stress-induced ventricular tachyarrhythmias