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FLASH GENE
Symbol JPH2 contributors: mct - updated : 24-08-2009
HGNC name junctophilin 2
HGNC id 14202
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility to hypertrophic cardiomyopathy
Variant & Polymorphism other mutation increasing the risk of hypertrophic cardiomyopathy (S101R, Y141H and S165F, which localize to key functional domains) (Landstrom 2007)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
JPH2 knockout mice showed disrupted calcium transients, altered junctional membrane complex formation, cardiomyopathy, and embryonic lethality (Landstrom 2007)