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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. De plus, nous expédions FBXL4 Kits (12) et FBXL4 Protéines (4) et beaucoup plus de produits pour cette protéine.
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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 (Montrer COX6B2 Anticorps) 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 (Montrer SKP1 Anticorps)-Cul1 (Montrer CUL1 Anticorps)-F-box and leucine-rich repeat protein 4 (SCF (Montrer KITLG Anticorps)-FbxL4) ubiquitin ligase regulates lysine demethylase (Montrer MBD2 Anticorps) 4A (KDM4A)/Jumonji domain-containing 2A (Montrer KDM4A Anticorps) (JMJD2A (Montrer KDM4A Anticorps)) protein
Calmodulin/CAMTA/Fbxl4 may mediate a long-term feedback regulation of the activity of Ca(2 (Montrer CA2 Anticorps)+)-stimulating G protein-coupled receptor (Montrer GPBAR1 Anticorps), which could prevent cell damage due to extra Ca(2 (Montrer CA2 Anticorps)+) 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