NFASC
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.
Full Name
neurofascin
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
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
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.
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
Helical: 1218-1238
Cytoplasmic: 1239-1347
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Anti-NFASC antibodies
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CompareTarget: NFASC
Sensitivity: 0.026 ng/mL
Detection Range: 0.05-20 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
Target: NFASC
Expressed Host: HEK293 Cells
Sequence: Amino Acid: 1-939
Tag: His Tag
Target: NFASC
Expressed Host: HEK293 Cells
Sequence: Amino Acid: 1-939
Tag: hFc Tag
Target: NFASC
Expressed Host: HEK293 Cells
Sequence: Amino Acid: 1-939
Tag: hFc Tag
Target: NFASC
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: D6G6O
Application*: WB, IP, IF
Target: NFASC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBWJN-1355
Application*: WB
Target: NFASC
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJN-1354
Application*: F
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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