Dec 25, 2024 · 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 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).

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.

Dec 10, 2024 · An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy.

该基因编码哺乳动物横纹肌中的一种主要肌节蛋白。 编码的蛋白质在胚胎心肌结构和功能中发挥作用，而编码蛋白质的磷酸化参与成人的心肌肌球蛋白循环动力学、扭转和功能。 该基因的突变与肥厚性心肌病 10 和婴儿期肌病有关。 [RefSeq 提供，2022 年 5 月] This gene encodes a major sarcomeric protein in mammalian striated muscle.

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 …

Nov 2, 2024 · Gene target information for MYL2 - myosin light chain 2 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Jul 13, 2021 · 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).

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.

– Associated Hypertrophic Cardiomyopathy MYL2 – Associated Hypertrophic Cardiomyopathy (HCM) is characterized by left ventricular hypertrophy in the. bsence of predisposing cardiac conditions. While there are more than 18 genes associated with autosomal dominant HCM, MYL2 mutations are thought t.