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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. Additionally we are shipping FBXL4 Antibodies (35) and FBXL4 Kits (12) and many more products for this protein.
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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 (show COX6B2 Proteins) 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 (show SKP1 Proteins)-Cul1 (show CUL1 Proteins)-F-box and leucine-rich repeat protein 4 (SCF (show KITLG Proteins)-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (show KDM4A Proteins) (JMJD2A (show KDM4A Proteins)) protein
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 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
, F-box/LRR-repeat protein 4