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Rabbit Anti-FLNC Recombinant Antibody (CBXF-0744) (CBMAB-F1395-CQ)

This product is a rabbit antibody that recognizes FLNC. The antibody CBXF-0744 can be used for immunoassay techniques such as: WB, IP.
See all FLNC antibodies

Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBXF-0744
Antibody Isotype
IgG
Application
WB, IP

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
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!]

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
Filamin C
Introduction
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene.
Entrez Gene ID
2318
UniProt ID
Q14315
Alternative Names
Filamin C; Actin Binding Protein 280; ABP-280-Like Protein; Filamin C, Gamma; Gamma Filamin; Filamin-2; FLN2; ABPL; Filamin C, Gamma (Actin Binding Protein 280); Actin-Binding-Like Protein; ABP-L, Gamma Filamin; Gamma-Filamin;
Function
Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.
Biological Process
Actin cytoskeleton organization Source: InterPro
Muscle cell development Source: Ensembl
Cellular Location
Cytoplasm; Cytoskeleton; Membrane; Z line. A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert.
Involvement in disease
Myopathy, myofibrillar, 5 (MFM5):
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction.
Myopathy, distal, 4 (MPD4):
A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.
Cardiomyopathy, familial hypertrophic 26 (CMH26):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Cardiomyopathy, familial restrictive 5 (RCM5):
A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.
PTM
Ubiquitinated by FBXL22, leading to proteasomal degradation.

Celeghin, R., Cipriani, A., Bariani, R., Marinas, M. B., Cason, M., Bevilacqua, M., ... & Bauce, B. (2022). Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death. Heart Rhythm, 19(2), 235-243.

Agarwal, R., Paulo, J. A., Toepfer, C. N., Ewoldt, J. K., Sundaram, S., Chopra, A., ... & Seidman, J. G. (2021). Filamin C cardiomyopathy variants cause protein and lysosome accumulation. Circulation research, 129(7), 751-766.

Song, S., Shi, A., Lian, H., Hu, S., & Nie, Y. (2021). Filamin C in cardiomyopathy: From physiological roles to DNA variants. Heart Failure Reviews, 1-13.

Eden, M., & Frey, N. (2021). Cardiac filaminopathies: illuminating the divergent role of filamin C mutations in human cardiomyopathy. Journal of Clinical Medicine, 10(4), 577.

Mao, Z., & Nakamura, F. (2020). Structure and function of filamin C in the muscle Z-disc. International Journal of Molecular Sciences, 21(8), 2696.

Zhou, Y., Chen, Z. E., Zhang, L., Zhu, M., Tan, C., Zhou, X., ... & Chen, J. (2020). Loss of filamin C is catastrophic for heart function. Circulation, 141(10), 869-871.

Hall, C. L., Akhtar, M. M., Sabater-Molina, M., Futema, M., Asimaki, A., Protonotarios, A., ... & McKenna, W. J. (2020). Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. International journal of cardiology, 307, 101-108.

Schuld, J., Orfanos, Z., Chevessier, F., Eggers, B., Heil, L., Uszkoreit, J., ... & Fürst, D. O. (2020). Homozygous expression of the myofibrillar myopathy-associated p. W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation. Acta Neuropathologica Communications, 8(1), 1-19.

Bains, S., Tester, D. J., Asirvatham, S. J., Noseworthy, P. A., Ackerman, M. J., & Giudicessi, J. R. (2019, May). A novel truncating variant in FLNC-encoded filamin C may serve as a proarrhythmic genetic substrate for arrhythmogenic bileaflet mitral valve prolapse syndrome. In Mayo Clinic Proceedings (Vol. 94, No. 5, pp. 906-913). Elsevier.

Begay, R. L., Graw, S. L., Sinagra, G., Asimaki, A., Rowland, T. J., Slavov, D. B., ... & Taylor, M. R. (2018). Filamin C truncation mutations are associated with arrhythmogenic dilated cardiomyopathy and changes in the cell–cell adhesion structures. JACC: Clinical Electrophysiology, 4(4), 504-514.

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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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