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FBXL4

26235269514ENSG00000112234ENSMUSG00000040410Q9UKA2Q8BH70NM_001278716NM_012160NM_172988NP_001265645NP_036292NP_766576F-box and leucine-rich repeat protein 4 is a protein that in humans is encoded by the FBXL4 gene. F-box and leucine-rich repeat protein 4 is a protein that in humans is encoded by the FBXL4 gene. 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. Mutations in this gene cause early-onset mitochondrial encephalomyopathy. This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[ "Mitochondrial DNA", "Disease", "Hypotonia", "MtDNA depletion", "Mitochondrial disease" ]
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