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Rabbit Anti-DYSF Recombinant Antibody (CBXF-0120) (V2LY-0425-LY1168)


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Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBXF-0120
Antibody Isotype
IgG
Application
WB, IHC-P, IF

Basic Information

Immunogen
Synthetic peptide within human dysferlin (aa 113-162).
Host Species
Rabbit
Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal Antibody
Application Notes
ApplicationNote
WB1:1,000-1:5,000
IF(ICC)1:50-1:200
IHC-P1:200

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

Format
Liquid
Buffer
BSA & Glycerol & TBS
Preservative
Sodium Azide
Concentration
1 mg/ml
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Dysferlin
Entrez Gene ID
8291
UniProt ID
O75923
Research Area
Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).
Biological Process
Macrophage activation involved in immune response Source: MGI
Membrane fusion Source: GO_Central
Monocyte activation involved in immune response Source: MGI
Negative regulation of phagocytosis Source: MGI
Plasma membrane organization Source: GO_Central
Plasma membrane repair Source: GO_Central
T-tubule organization Source: GO_Central
Vesicle fusion Source: GO_Central
Cellular Location
Sarcolemma; Cell membrane; Cytoplasmic vesicle membrane. Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca2+-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity).
Involvement in disease
Muscular dystrophy, limb-girdle, autosomal recessive 2 (LGMDR2):
An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.
Miyoshi muscular dystrophy 1 (MMD1):
A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.
Distal myopathy with anterior tibial onset (DMAT):
Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.
Topology
Cytoplasmic: 1-2046
Helical: 2047-2067
Extracellular: 2068-2080
More Infomation

Folland, C., Johnsen, R., Gomez, A. B., Trajanoski, D., Davis, M. R., Moore, U., ... & Ravenscroft, G. (2022). Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy. Neuropathology and Applied Neurobiology, e12846.

Muriel, J., Lukyanenko, V., Kwiatkowski, T., Bhattacharya, S., Garman, D., Weisleder, N., & Bloch, R. J. (2022). The C2 domains of dysferlin: roles in membrane localization, Ca2+ signalling and sarcolemmal repair. The Journal of Physiology, 600(8), 1953-1968.

Charnay, T., Blanck, V., Cerino, M., Bartoli, M., Riccardi, F., Bonello-Palot, N., ... & Krahn, M. (2021). Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in Medicine, 23(8), 1574-1577.

Zhong, H., Yu, M., Lin, P., Zhao, Z., Zheng, X., Xi, J., ... & Yuan, Y. (2021). Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. Human Mutation, 42(12), 1615-1623.

Izumi, R., Takahashi, T., Suzuki, N., Niihori, T., Ono, H., Nakamura, N., ... & Aoki, M. (2020). The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain. Human mutation, 41(9), 1540-1554.

Cox, A., Zhao, C., Tolkach, Y., Nettersheim, D., Schmidt, D., Kristiansen, G., ... & Ellinger, J. (2020, August). The contrasting roles of Dysferlin during tumor progression in renal cell carcinoma. In Urologic Oncology: Seminars and Original Investigations (Vol. 38, No. 8, pp. 687-e1). Elsevier.

Xiao, Y., Zhu, H., Li, L., Gao, S., Liu, D., Dai, B., ... & Zuo, X. (2019). Global analysis of protein expression in muscle tissues of dermatomyositis/polymyosisits patients demonstrated an association between dysferlin and human leucocyte antigen A. Rheumatology, 58(8), 1474-1484.

Lee, J. J., Maruyama, R., Duddy, W., Sakurai, H., & Yokota, T. (2018). Identification of novel antisense-mediated exon skipping targets in DYSF for therapeutic treatment of dysferlinopathy. Molecular Therapy-Nucleic Acids, 13, 596-604.

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

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