SCN8A

GENE INFORMATION

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Gene name

SCN8A (HGNC Symbol)

Synonyms

CerIII, MED, NaCh6, Nav1.6, PN4

Description

sodium channel, voltage gated, type VIII, alpha subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

12 (Chromosome progress)

Cytoband

q13.13

Chromosome location (bp)

51984050 - 52203558

Ensembl

ENSG00000196876 (version 73.37)

Entrez gene

6334

UniProt

Q9UQD0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UQD0

Antibodypedia

SCN8A antibodies
 

PROTEIN VIEW

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SCN8A-001
 
SCN8A-003
 
SCN8A-004
 
SCN8A-005
 
SCN8A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN8A-001 ENSP00000346534
ENST00000354534
Q9UQD0
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Show » Show » 1980 225.3 No >9
SCN8A-003 ENSP00000448415
ENST00000550891
F8VRN5
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Show » Show » 972 109.9 No >9
SCN8A-004 ENSP00000447567
ENST00000551216
F8W0Q0
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Show » Show » 475 53.2 No 3
SCN8A-005 ENSP00000347255
ENST00000355133
F8VWM7
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Show » Show » 1557 177.4 No >9
SCN8A-201 ENSP00000440360
ENST00000545061
Q9UQD0
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Show » Show » 1939 220.8 No >9