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FLASH GENE

Symbol

JUP

contributors: mct - updated : 05-04-2016

HGNC name	junction plakoglobin
HGNC id	6207

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ARVDPPK , ARVD12

related resource

Gene Connection for the Heart - Naxos disease database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function by somatic mutation in gastric tumors tumoral     --over   implicated in the promotion of genomic instability in cancer cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Jup mutant mice showed a biventricular cardiomyopathy with an early and severe hit on the RV, which seemingly contradicts the term ‘ARVC'