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Open Access Articles- Top Results for SCN1B

SCN1B

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Identifiers
SymbolsSCN1B ; ATFB13; BRGDA5; GEFSP1
External IDsOMIM600235 MGI98247 HomoloGene810 ChEMBL: 5487 GeneCards: SCN1B Gene
RNA expression pattern
File:PBB GE SCN1B 205508 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez632420266
EnsemblENSG00000105711ENSMUSG00000019194
UniProtQ07699P97952
RefSeq (mRNA)NM_001037NM_011322
RefSeq (protein)NP_001028NP_035452
Location (UCSC)Chr 19:
35.03 – 35.04 Mb
Chr 7:
31.12 – 31.13 Mb
PubMed search[1][2]

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.[1][2]

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][2]

Clinical significance

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

See also

References

  1. ^ 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. PMID 8394762. doi:10.1093/hmg/2.6.745. 
  2. ^ a b "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta". 

Further reading

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External links

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