Entrez 26235 | Ensembl ENSG00000112234 | |
Aliases FBXL4, FBL4, FBL5, MTDPS13, F-box and leucine-rich repeat protein 4, F-box and leucine rich repeat protein 4 External IDs MGI: 2140367 HomoloGene: 8128 GeneCards: FBXL4 | ||
F-box and leucine-rich repeat protein 4 is a protein that in humans is encoded by the FBXL4 gene.
Contents
Structure
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 9 tandem leucine-rich repeats.
Clinical significance
Mutations in this gene cause early-onset mitochondrial encephalomyopathy.