Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) also known as the regulatory light chain of myosin (RLC) is a protein that in humans is encoded by the MYL2 gene. [5][6] This cardiac ventricular RLC isoform is distinct from that expressed in skeletal muscle (MYLPF), smooth muscle (MYL12B) and cardiac atrial muscle (MYL7).

2024年12月25日 · MYL2 (Myosin Light Chain 2) is a Protein Coding gene. Diseases associated with MYL2 include Cardiomyopathy, Familial Hypertrophic, 10 and Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy. Among its related pathways are Activation of cAMP-Dependent PKA and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases.

Myosin light chain-2 (MYL2, also called MLC-2) is an ∼19 kDa sarcomeric protein that belongs to the EF-hand calcium binding protein superfamily and exists as three major isoforms encoded by three distinct genes in mammalian striated muscle.

MYL2 – Associated Hypertrophic Cardiomyopathy (HCM) is characterized by left ventricular hypertrophy in the absence of predisposing cardiac conditions. While there are more than 18 genes associated with autosomal dominant HCM, MYL2 mutations are thought to comprise a very small number of cases (1). The MYL2 gene

This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy. MYL2 was down-expressed in heart failure tissues, and findings suggested that MYL2 may play a role in the development and …

2021年7月13日 · Myosin light chain-2 (MYL2) is an important protein in the regulation of myosin ATPase activity in smooth muscle, skeletal muscle, and cardiac muscle. An increase in ventricular MYL2 is observed in the hypertrophied myocardium of cardiac patients with valvular stenosis (summary by Poetter et al., 1996; Macera et al., 1992; Weterman et al., 2013).

In this report we describe a novel sarcomeric protein mutation in the MYL2 gene encoding for the ventricular regulatory light chain (RLC) of myosin that was identified by exome sequencing in a pedigree with familial dilated cardiomyopathy.

Myosin light chain 2 (MYL2, encoding the ventricular/cardiac muscle isoform MLC2v protein) is regarded as a ventricular-specific marker of cardiac myocardium; however, its restricted localization to ventricles during human heart development has been questioned.

2024年12月10日 · Title: Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology. Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2.

Selective cytoplasmic expression in heart and skeletal muscle. Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas. All transcripts of all genes have been analyzed regarding the location (s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.