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FLASH GENE

Symbol

PDLIM3

contributors: mct - updated : 22-10-2011

HGNC name	PDZ and LIM domain 3
HGNC id	20767

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in gastric cancer constitutional germinal mutation       abnormal PDLIM3 splicing affects the heart more than the skeletal muscles in patients with DM1

Susceptibility

to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

PDLIM3-/- mice develop cardiomyopathy that resembles human arrhythmogenic right ventricular cardiomyopathy (ARVD/C) with mild left ventricular involvement