SCN1B

SCN1B
Identifiers
Aliases SCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1
External IDs MGI: 98247 HomoloGene: 810 GeneCards: SCN1B
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

6324

20266

Ensembl

ENSG00000105711

ENSMUSG00000019194

UniProt

Q07699

P97952

RefSeq (mRNA)

NM_001037
NM_199037
NM_001321605

NM_011322

RefSeq (protein)

NP_001028.1
NP_950238.1
NP_001308534.1

NP_035452.1

Location (UCSC) Chr 19: 35.03 – 35.04 Mb Chr 7: 31.12 – 31.13 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[3][4]

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][4]

Clinical significance

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

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF (Sep 1993). "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain". Hum Mol Genet. 2 (6): 745–9. doi:10.1093/hmg/2.6.745. PMID 8394762.
  4. 1 2 "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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