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Mouse Anti-FBXL4 Recombinant Antibody (CBXF-0387) (CBMAB-F2230-CQ)

This product is a mouse antibody that recognizes FBXL4. The antibody CBXF-0387 can be used for immunoassay techniques such as: WB.
See all FBXL4 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXF-0387
Antibody Isotype
IgG1
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4, 1% BSA
Preservative
0.05% sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
F-box and leucine-rich repeat protein 4
Introduction
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
26235
UniProt ID
Q9UKA2
Alternative Names
F-Box And Leucine Rich Repeat Protein 4; FBL4; FBL5; F-Box And Leucine-Rich Repeat Protein 4; F-Box/LRR-Repeat Protein 4; F-Box Protein FBL4/FBL5; MTDPS13;
Biological Process
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process Source: GO_Central
Ubiquitin-dependent protein catabolic process Source: ProtInc
Cellular Location
Mitochondrion; Cytoplasm; Nucleus
Involvement in disease
Mitochondrial DNA depletion syndrome 13 (MTDPS13):
An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.

Lavorato, M., Nakamaru-Ogiso, E., Mathew, N. D., Herman, E., Shah, N., Haroon, S., ... & Falk, M. J. (2022). Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models. JCI insight, 7(16).

Jiang, H., & Cao, Y. (2022). A mitochondrial SCF-FBXL4 ubiquitin E3 ligase complex restrains excessive mitophagy to prevent mitochondrial disease. bioRxiv.

Oncul, U., Kose, E., & Eminoglu, F. T. (2021). A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant. Molecular Syndromology, 12(5), 294-299.

Wang, S., Lin, L., Wang, Y., Wang, A., Liu, Z., Wu, S., ... & Chen, Y. (2020). Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. Journal of the Neurological Sciences, 416, 116948.

Alsina, D., Lytovchenko, O., Schab, A., Atanassov, I., Schober, F. A., Jiang, M., ... & Larsson, N. G. (2020). FBXL 4 deficiency increases mitochondrial removal by autophagy. EMBO molecular medicine, 12(7), e11659.

Emperador, S., Garrido-Pérez, N., Amezcua-Gil, J., Gaudó, P., Andrés-Sanz, J. A., Yubero, D., ... & Bayona-Bafaluy, M. P. (2020). Molecular characterization of new FBXL4 mutations in patients with mtDNA depletion syndrome. Frontiers in Genetics, 10, 1300.

Sabouny, R., Wong, R., Lee-Glover, L., Greenway, S. C., Sinasac, D. S., Canada, C., ... & Shutt, T. E. (2019). Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1865(11), 165536.

Ballout, R. A., Al Alam, C., Bonnen, P. E., Huemer, M., El-Hattab, A. W., & Shbarou, R. (2019). FBXL4-related mitochondrial DNA depletion syndrome 13 (MTDPS13): a case report with a comprehensive mutation review. Frontiers in genetics, 10, 39.

Kuptanon, C., Srichomthong, C., Ittiwut, C., Wechapinan, T., Sri-Udomkajorn, S., Iamopas, O., ... & Shotelersuk, V. (2019). Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. Gene, 696, 21-27.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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