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SCN1B
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SCN1B
Identifiers
AliasesSCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1, EIEE52, DEE52
External IDsOMIM: 600235; MGI: 98247; HomoloGene: 810; GeneCards: SCN1B; OMA:SCN1B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001037
NM_199037
NM_001321605

NM_011322

RefSeq (protein)

NP_001028
NP_001308534
NP_950238

NP_035452
NP_001389263

Location (UCSC)Chr 19: 35.03 – 35.04 MbChr 7: 30.82 – 30.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[5][6]

Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM][6]

Clinical significance

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Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS.

See also

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References

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Further reading

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