MKL2
mkl2: A Comprehensive Guide
Description
Mkl2, also known as myosin light chain kinase 2, is an enzyme that plays a crucial role in muscle contraction and cell movement. It phosphorylates myosin light chain, which activates myosin and enables it to bind to actin filaments, initiating muscle contraction.
Associated Diseases
Mutations in the MKL2 gene have been linked to several medical conditions, including:
- Dilated cardiomyopathy (DCM): A condition characterized by the enlargement and weakening of the heart muscle, leading to reduced pumping capacity.
- Hypertrophic cardiomyopathy (HCM): A disease characterized by abnormal thickening of the heart muscle, which can obstruct blood flow.
- Restrictive cardiomyopathy (RCM): A condition characterized by a stiffening of the heart muscle, making it difficult for the heart to fill with blood.
- Pulmonary arterial hypertension (PAH): A condition characterized by increased blood pressure in the arteries of the lungs, leading to right-sided heart failure.
- Smooth muscle disorders: Dysregulation of MKL2 can lead to impaired smooth muscle function, such as in vascular smooth muscle cells (VSMC) and airway smooth muscle cells (ASM).
Did you Know ?
Approximately 1 in 5,000 people worldwide are estimated to have a mutation in the MKL2 gene.
