MKL1
MKL1
Description
MKL1 (Megakaryoblastic Leukemia 1) is a gene that provides instructions for making a protein called MKL1, a member of the MRTF (myocardin-related transcription factor) family of proteins. MRTF proteins are key regulators of gene expression, particularly involved in controlling the expression of genes involved in smooth muscle differentiation and function. MKL1 is specifically involved in regulating the expression of genes that are required for the differentiation of smooth muscle progenitors into mature smooth muscle cells. Smooth muscle cells play a crucial role in maintaining the structure and function of blood vessels, airways, and other organs by regulating muscle contraction and blood flow.
Associated Diseases
Mutations in the MKL1 gene have been linked to a rare genetic disorder known as familial thoracic aortic aneurysm and dissection (FTAAD), characterized by a weakened and enlarged aorta, the major artery that carries blood from the heart. Individuals with FTAAD are at risk of developing life-threatening aortic aneurysms, where the aorta balloons and weakens, and aortic dissection, where the aorta tears along its weakened point. MKL1 mutations are also associated with a type of cancer called megakaryoblastic leukemia.
Did you Know ?
Approximately 1 in 20,000 individuals worldwide are estimated to carry a mutation in the MKL1 gene. While rare, mutations in this gene can have a significant impact on the health of those affected.
