Signal Transduction Antibodies 1

Anti-SCN8A Antibody (CAB10007)

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SKU:
CAB10007
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-SCN8A Antibody
Antibody SKU:CAB10007
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1350-1440 of human SCN8A (NP_055006.1).
Application:WB
Recommended Dilution:WB 1:200 - 1:1000
Reactivity:Human
Positive Samples:K-562, SH-SY5Y, 293T
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1350-1440 of human SCN8A (NP_055006.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:AGKY HYCF NETS EIRF EIED VNNK TECE KLME GNNT EIRW KNVK INFD NVGA GYLA LLQV ATFK GWMD IMYA AVDS RKPD EQPK YEDN IYM
Gene ID:6334
Uniprot:Q9UQD0
Cellular Location:Cytoplasmic vesicle, Membrane, Multi-pass membrane protein
Calculated MW:145kDa/220kDa/225kDa/226kDa
Observed MW:165kDa
Synonyms:SCN8A, BFIS5, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4
Background:This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.
UniProt Protein Function:SCN8A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation. Defects in SCN8A are the cause of cognitive impairment with or without cerebellar ataxia (CIAT). A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. Defects in SCN8A are the cause of epileptic encephalopathy, early infantile, type 13 (EIEE13). A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. 5 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12q13.13

Cellular Component: integral to membrane; plasma membrane; voltage-gated sodium channel complex; Z disc

Molecular Function:protein binding; voltage-gated sodium channel activity

Biological Process: generation of action potential; myelination; nervous system development; peripheral nervous system development

Disease: Cognitive Impairment With Or Without Cerebellar Ataxia; Epileptic Encephalopathy, Early Infantile, 13; Seizures, Benign Familial Infantile, 5

NCBI Summary:This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
UniProt Code:Q9UQD0
NCBI GenInfo Identifier:34098756
NCBI Gene ID:6334
NCBI Accession:Q9UQD0.1
UniProt Secondary Accession:Q9UQD0,O95788, Q9NYX2, Q9UPB2, B9VWG8,
UniProt Related Accession:Q9UQD0
Molecular Weight:225kDa
NCBI Full Name:Sodium channel protein type 8 subunit alpha
NCBI Synonym Full Names:sodium voltage-gated channel alpha subunit 8
NCBI Official Symbol:SCN8A  
NCBI Official Synonym Symbols:MED; PN4; CIAT; BFIS5; NaCh6; CERIII; EIEE13; Nav1.6  
NCBI Protein Information:sodium channel protein type 8 subunit alpha
UniProt Protein Name:Sodium channel protein type 8 subunit alpha
UniProt Synonym Protein Names:Sodium channel protein type VIII subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.6
Protein Family:Sodium channel protein
UniProt Gene Name:SCN8A  
Anti-SCN8A Antibody (CAB10007)Western blot analysis of extracts of various cell lines, using SCN8A antibody (CAB10007) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
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