FBXO7 Antibody – Rabbit Polyclonal

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]

FBXO7: 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. Defects in FBXO7 are the cause of Parkinson disease type 15 (PARK15); also known as parkinsonian-pyramidal syndrome. A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 22q12.3

Cellular Component: cytoplasm; cytosol; mitochondrion; nucleus; protein complex; ubiquitin ligase complex

Molecular Function: protein binding; ubiquitin-protein ligase activity

Biological Process: mitochondrion degradation; protein targeting to mitochondrion; protein ubiquitination; regulation of protein stability; ubiquitin-dependent protein catabolic process

Disease: Parkinson Disease 15, Autosomal Recessive Early-onset