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FLASH GENE

Symbol

TCAP

contributors: mct/pgu - updated : 28-03-2012

HGNC name	titin-cap (telethonin)
HGNC id	11610

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2G , CMD1N

related resource

Limb-Girdle Muscular Dystrophy pages

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   loss of telethonin mRNA and nuclear accumulation of this protein is associated with heart failure, an effect that may contribute to enhanced rates of apoptosis found in these hearts

Susceptibility

to hypertrophic cardiomyopathy (HCM) to dilated cardiomyopathy (DCM)

Variant & Polymorphism other	T137I and R153H, were found in patients with HCM (mutation augment the ability of TCAP to interact with titin and MYOZ2)
	E132Q, in a patient with DCM (mutation impair the interaction of TCAP with MLP, titin, and MYOZ2)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS