Gene ACTC1

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Also known as

ACTC, ASD5, CMD1R, CMH11, LVNC4

Overview

ACTC1 (Actin Alpha Cardiac Muscle 1) encodes cardiac alpha-actin, a major component of the thin filaments in cardiac muscle sarcomeres. This protein is essential for cardiac muscle contraction and heart function, interacting with myosin to generate the force required for each heartbeat.

Mutations in ACTC1 are associated with various cardiomyopathies including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left ventricular noncompaction (LVNC). These conditions can lead to heart failure, arrhythmias, and sudden cardiac death. ACTC1 mutations are also linked to certain congenital heart defects such as atrial septal defects.

Individuals with pathogenic ACTC1 variants benefit from regular cardiac monitoring, including echocardiography and electrocardiography. Family screening is recommended due to the autosomal dominant inheritance pattern. Understanding your ACTC1 genetic status is crucial for cardiac health management and risk assessment.

NutraHacker Raw DNA Analysis Products that include this gene

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