功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Mitochondrion . Cytoplasm, cytosol . Predominantly cytoplasmic (PubMed:16096642). A minor proportion is detected in the nucleus (PubMed:16096642). Relocates from the cytosol to depolarized mitochondria (PubMed:23933751). .
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Mitochondrion . Cytoplasm, cytosol . Predominantly cytoplasmic (PubMed:16096642). A minor proportion is detected in the nucleus (PubMed:16096642). Relocates from the cytosol to depolarized mitochondria (PubMed:23933751). .
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