SCN4A

GENE INFORMATION

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Gene name

SCN4A (HGNC Symbol)

Synonyms

HYKPP, HYPP, Nav1.4, SkM1

Description

Sodium channel, voltage-gated, type IV, alpha subunit (HGNC Symbol)

Entrez gene summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q23.3

Chromosome location (bp)

62015914 - 62050278

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000007314 (version 75.37)

Entrez gene

6329

UniProt

P35499 (UniProt - Evidence at protein level)

neXtProt

NX_P35499

Antibodypedia

SCN4A antibodies
 

PROTEIN VIEW

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SCN4A-001
 
SCN4A-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)

SCN4A-001 ENSP00000463963
ENST00000578147
J3QQZ1
Show all »
Show » Show » 1836 208.2 No >9
SCN4A-201 ENSP00000396320
ENST00000435607
P35499
Show all »
Show » Show » 1836 208.1 No >9