Summary
Performance
Immunogen
Application
Background
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 the 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 Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008],disease:Defects in FBXO7 may be the cause of parkinsonian-pyramidal syndrome (PKPS) [MIM:260300]. PKPS is a hypokinetic rigid disorder, the most common example of which is Parkinson disease. PKPS is a rare disorder that exhibits both Parkinsonian and pyramidal-associated signs. Symptoms, which may bevague in the beginning, start in young adulthood, progress relatively slowly, and may culminate in severe movement incapacity. Response to levadopa is usually dramatic and sustained for many years. Most, but not all, reported cases have been familial and associated with parental consanguinity, suggesting autosomal-recessive inheritance.,function:Substrate recognition component of a (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5.,pathway:Protein modification; protein ubiquitination.,similarity:Contains 1 F-box domain.,subunit:Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO7) formed of CUL1, SKP1A, RBX1 and FBXO7. Interacts via its C-terminal proline-rich region with DLGAP5. Interacts with BIRC2.,
Research Area
