Filamin-C (FLN-C) also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2) is a protein that in humans is encoded by the FLNC gene. [ 5 ] [ 6 ] [ 7 ] Filamin-C is mainly expressed in cardiac and skeletal muscles, and functions at Z-discs and in subsarcolemmal regions.

FLNC‐associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene. The appropriate functioning of FLNC is crucial for structural integrity and cell signaling of the sarcomere.

2024年12月25日 · FLNC (Filamin C) is a Protein Coding gene. Diseases associated with FLNC include Myopathy, Distal, 4 and Cardiomyopathy, Familial Hypertrophic, 26. Among its related pathways are Cell junction organization and PAK Pathway. Gene Ontology (GO) annotations related to this gene include actin filament binding and ankyrin binding.

FLNC variants are now among the more prevalent causes of genetic DCM. FLNC-associated DCM is associated with a malignant clinical course and a high risk of sudden cardiac death. The clinical spectrum of FLNC suggests different pathomechanisms related to variant types and their location in the gene.

2022年6月14日 · The FLNC gene, which encodes the filamin-C sarcomeric protein, has recently garnered attention as a potential cause of arrhythmogenic cardiomyopathy (ACM). 1 Early reports have shown convincing associations of FLNC variants with an overlapping phenotype of dilated cardiomyopathy (DCM) and ACM, which is typically left-dominant (also called ...

Filamin C (FLNC) is a type of filamin protein that is mainly found in skeletal and heart muscle cells, and it helps maintain stability of the muscle. There are some genetic variants (or mutations) that affect the FLNC gene that encodes for filamin C.

2019年3月28日 · FLNC gene mutations have been associated with skeletal myopathy, as well as hypertrophic, restrictive, and dilated cardiomyopathy. This gene encodes for the gamma isoform of Filamin C (FLNC), a protein with structural and signaling functions in the myocyte. 1 Clinical reports of associations between FLNC variants and restrictive cardiomyopathy ...

FLNC is a disease gene for autosomal-dominant Restrictive Cardiomyopathy and broadens the phenotype spectrum of filaminopathies. The identification of Filamin C as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be ...

Objective: Filamin C gene truncations (FLNCtv) have recently been identified in dilated cardiomyopathy with ventricular arrhythmia and sudden cardiac death, a phenotype partially overlapping with ARVC and part of the ACM spectrum. We hypothesised that FLNCtv could be a novel gene associated with ARVC.

2021年9月17日 · Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance. FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role in the pathogenesis of cardiomyopathy.