The FBXL4 gene provides instructions for making a member of a family of proteins called F-box and leucine rich repeat proteins. Like other members of this family, FBXL4 associates with a group of proteins to form a complex. The protein complex that contains FBXL4 is found within cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division (proliferation) and cell death (apoptosis). Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. As part of the protein complex, the FBXL4 protein is likely involved in the maintenance of mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells.
Other Names
F-box/LRR-repeat protein 4; FBL4; FBL5
Related Genetics Topics
- Leigh syndrome — MedlinePlus Genetics
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 26235
- OMIM: 605654
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
