FBXL4 is a gene that produces a protein found in cell structures called mitochondria, which are mainly involved in the energy production for the cell. Mitochondria contain their own DNA (mtDNA), which is essential for the normal function of the mitochondria; FBXL4 is involved in the maintenance of mitochondrial DNA. A lack of FBXL4 protein causes problems in the proper maintenance of mitochondrial DNA, which leads to reduced mitochondrial function, eventually leading to cell dysfunction mainly affecting the brain, muscles, and other tissues with high-energy requirements.
FBXL4