Mouse Anti-NFASC Recombinant Antibody (CBWJN-1354) (CBMAB-N2142-WJ)

Name: Mouse Anti-NFASC Recombinant Antibody (CBWJN-1354)
SKU: CBMAB-N2142-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBWJN-1354

Application

Specificity

Human

Antibody Isotype

IgG1

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!]

Format

Liquid

Buffer

0.5% BSA

Preservative

0.09% 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.

More Infomation

Target

Full Name

neurofascin

Introduction

This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]

Entrez Gene ID

23114

UniProt ID

O94856

Alternative Names

Neurofascin; Neurofascin Homolog (Chicken); Neurofascin Homolog; KIAA0756; NRCAML; NF;

Function

Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.

Biological Process

Axon guidance Source: GO_Central
Brain development Source: GO_Central
Cell-cell adhesion Source: GO_Central
Myelination Source: BHF-UCL
Peripheral nervous system development Source: BHF-UCL
Protein localization to plasma membrane Source: Ensembl
Synapse organization Source: InterPro
Transmission of nerve impulse Source: InterPro

Cellular Location

Plasma membrane
Cell membrane
Isoform 8:
Other locations
paranodal septate junction

Involvement in disease

Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD):
An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy.

Topology

Extracellular: 25-1217
Helical: 1218-1238
Cytoplasmic: 1239-1347

Chen, P., Yao, M., Fang, T., Ye, C., Du, Y., Jin, Y., & Wu, R. (2022). Identification of NFASC and CHL1 as two novel hub genes in endometriosis using integrated bioinformatic analysis and experimental verification. Pharmacogenomics and Personalized Medicine, 377-392.

Harper, J. L., Wilson, T. E., & Mitchell, R. M. (2020). Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. International Journal of Pediatric Otorhinolaryngology, 131, 109863.

Kvarnung, M., Shahsavani, M., Taylan, F., Moslem, M., Breeuwsma, N., Laan, L., ... & Falk, A. (2019). Ataxia in patients with bi-allelic NFASC mutations and absence of full-length NF186. Frontiers in genetics, 10, 896.

Wu, J., Huang, W. J., Xi, H. L., Liu, L. Y., Wang, S. T., Fan, W. Z., & Peng, B. G. (2019). Tumor-suppressive miR-3650 inhibits tumor metastasis by directly targeting NFASC in hepatocellular carcinoma. Aging (Albany NY), 11(11), 3432.

Monfrini, E., Straniero, L., Bonato, S., Compagnoni, G. M., Bordoni, A., Dilena, R., ... & Di Fonzo, A. (2019). Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. Parkinsonism & Related Disorders, 63, 66-72.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

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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