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FLASH GENE

Symbol

TNNC1

contributors: npt/mct - updated : 27-12-2016

HGNC name	troponin C type 1 (slow)
HGNC id	11943

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMH13 , RCM5

Susceptibility

to dilated cardiomyopathy (DCM) to Hypertrophic Cardiomyopathy

Variant & Polymorphism other	Y5H, M103I, G159D and Q50R, and I148V variants associated with DCM
	TNNC1-A8V mutant increases the Ca(2+)-binding affinity of the thin filament and elicits changes in Ca(2+) homeostasis and cellular remodeling, which leads to diastolic dysfunction, and to hypertrophic cardiomyopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS