Gene FLNC

Also known as

ABPL, ABP-280, FLN2, MFM5, filamin C, gamma-filamin

Overview

FLNC (Filamin C) encodes a muscle-specific filamin protein that crosslinks actin filaments and anchors membrane proteins to the actin cytoskeleton in striated muscle. This protein is essential for maintaining muscle fiber integrity during contraction and is concentrated at Z-discs and intercalated discs in cardiac muscle.

Mutations in FLNC cause various forms of cardiomyopathy and muscular dystrophy. Truncating mutations are particularly associated with dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, both of which can lead to sudden cardiac death. Missense mutations more commonly cause myofibrillar myopathy with characteristic protein aggregates in muscle fibers. FLNC is increasingly recognized as an important cause of inherited heart disease.

Understanding your FLNC genetic status is important for individuals with unexplained cardiomyopathy or muscular dystrophy and their family members. Early identification of pathogenic variants enables cardiac monitoring and preventive measures including consideration of implantable defibrillators in high-risk individuals.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene FLNC through your personalized DNA reports.