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FBXL4 encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. Zusätzlich bieten wir Ihnen FBXL4 Kits (12) und FBXL4 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease.
Overall, FBXL4 defects account for at least 0.7% (6 out of 808) of subjects suspected to have a mitochondrial disorder, and as high as 14.3% (4 out of 28) in young children with congenital lactic acidosis and clinical features of mitochondrial disease. Including FBLX4 in the mitochondrial diseases panel should be particularly important for patients with congenital lactic acidosis
On clinical indication of mitochondrial encephalomyopathy, sequencing of FBXL4 should be performed, even when the activity levels of the MRC enzymes are normal
A clinical pattern of early-onset encephalopathy, persistent lactic acidosis, profound muscular hypotonia and typical facial dysmorphism should prompt initiation of molecular genetic analysis of FBXL4.
Mutations in FBXL4 are disease causing and establish FBXL4 as a mitochondrial protein (zeige COX6B2 Antikörper) with a possible role in maintaining mtDNA integrity and stability.
These data strongly support a role for FBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance.
SKP1 (zeige SKP1 Antikörper)-Cul1 (zeige CUL1 Antikörper)-F-box and leucine-rich repeat protein 4 (SCF (zeige KITLG Antikörper)-FbxL4) ubiquitin ligase regulates lysine demethylase (zeige MBD2 Antikörper) 4A (KDM4A)/Jumonji domain-containing 2A (zeige KDM4A Antikörper) (JMJD2A (zeige KDM4A Antikörper)) protein
This study uncovered a critical molecular linkage between the circadian clock and the electrical activity of pacemaker neurons and demonstrated that CLOCK-dependent Fbxl4 expression rhythmically downregulates GABAA (zeige GABRg1 Antikörper) receptor level to increase the activity of pacemaker neurons and promote wakefulness.
Calmodulin/CAMTA/Fbxl4 may mediate a long-term feedback regulation of the activity of Ca(2 (zeige CA2 Antikörper)+)-stimulating G protein-coupled receptor (zeige GPBAR1 Antikörper), which could prevent cell damage due to extra Ca(2 (zeige CA2 Antikörper)+) influx.
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.
F-box/LRR-repeat protein 4
, F-box and leucine-rich repeat protein 4
, F box and leucine-rich-repeat gene 4
, F-box/LRR-repeat protein 4-like
, f-box/LRR-repeat protein 4-like