Gene Symbol | FBXL4 |
Entrez Gene ID | 26235 |
Full Name | F-box and leucine rich repeat protein 4 |
Synonyms | FBL4,FBL5,MTDPS13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) |