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Human Anti-CNTNAP1 Recombinant Antibody (CBYY-C2964) (CBMAB-C4407-YY)

This product is human antibody that recognizes CNTNAP1. The antibody CBYY-C2964 can be used for immunoassay techniques such as: IHC-Fr, ELISA, WB
See all CNTNAP1 antibodies

Summary

Host Animal
Human
Specificity
Human, Mouse, Rat
Clone
CBYY-C2964
Application
IHC-Fr, ELISA, WB

Basic Information

Immunogen
Fusion protein corresponding to the C-terminal region of rat Caspr1
Specificity
Human, Mouse, Rat
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!]

Buffer
0.1 mg/mL
Concentration
Liquid
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
Contactin Associated Protein 1
Entrez Gene ID
Human8506
Mouse53321
Rat84008
UniProt ID
HumanP78357
MouseO54991
RatP97846
Alternative Names
Caspase 2; Neural Precursor Cell Expressed Developmentally Down-Regulated Protein 2; Protein Phosphatase 1, Regulatory Subunit 57; Protease ICH-1; EC 3.4.22.55; CASP-2; NEDD-2; NEDD2;
Function
Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
Biological Process
Cell adhesion Source: UniProtKB-KW
Central nervous system myelination Source: UniProtKB
Cytoskeleton organization Source: BHF-UCL
Myelination in peripheral nervous system Source: UniProtKB
Neuromuscular process controlling balance Source: Ensembl
Neuromuscular process controlling posture Source: Ensembl
Neuronal action potential propagation Source: BHF-UCL
Neuron projection morphogenesis Source: UniProtKB
Paranodal junction assembly Source: UniProtKB
Protein localization to juxtaparanode region of axon Source: UniProtKB
Protein localization to paranode region of axon Source: BHF-UCL
Signal transduction Source: ProtInc
Cellular Location
Membrane; Paranodal septate junction
Involvement in disease
Lethal congenital contracture syndrome 7 (LCCS7):
A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period.
Neuropathy, congenital hypomyelinating, 3 (CHN3):
A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN3 is a severe autosomal recessive form characterized by onset of neurogenic muscle impairment in utero. Affected individuals have profoundly impaired psychomotor development and may die in infancy or early childhood.
Topology
Extracellular: 20-1283
Helical: 1284-1304
Cytoplasmic: 1305-1384

Li, W., Meng, X., Yuan, H., Xiao, W., & Zhang, X. (2022). M2‐Polarization‐related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma. IUBMB life.

Letko, A., Minor, K. M., Friedenberg, S. G., Shelton, G. D., Salvador, J. P., Mandigers, P. J., ... & Drögemüller, C. (2020). A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. Genes, 11(12), 1426.

Sabbagh, S., Antoun, S., & Mégarbané, A. (2020). CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case reports in medicine, 2020.

Lesmana, H., Lee, M. V., Hosseini, S. A., Burrow, T. A., Hallinan, B., Bove, K., ... & Hopkin, R. J. (2019). CNTNAP1-related congenital hypomyelinating neuropathy. Pediatric Neurology, 93, 43-49.

Freed, A. S., Weiss, M. D., Malouf, E. A., & Hisama, F. M. (2019). CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle & nerve, 60(5), E28.

Conant, A., Curiel, J., Pizzino, A., Sabetrasekh, P., Murphy, J., Bloom, M., ... & Vanderver, A. (2018). Absence of axoglial paranodal junctions in a child with CNTNAP1 mutations, hypomyelination, and arthrogryposis. Journal of child neurology, 33(10), 642-650.

Lakhani, S., Doan, R., Almureikhi, M., Partlow, J. N., Al Saffar, M., Elsaid, M. F., ... & Ben-Omran, T. (2017). Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. European journal of medical genetics, 60(5), 245-249.

Mehta, P., Küspert, M., Bale, T., Brownstein, C. A., Towne, M. C., De Girolami, U., ... & Agrawal, P. B. (2017). Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle & nerve, 55(5), 761-765.

Nizon, M., Cogne, B., Vallat, J. M., Joubert, M., Liet, J. M., Simon, L., ... & Isidor, B. (2017). Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. European Journal of Human Genetics, 25(1), 150-152.

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

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