SCN1B

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
SCN1B
Identifiers
AliasesSCN1B, ATFB13, BRGDA5, GEFSP1, sodium voltage-gated channel beta subunit 1, EIEE52
External IDsOMIM: 600235 MGI: 98247 HomoloGene: 810 GeneCards: SCN1B
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SCN1B
Genomic location for SCN1B
Band19q13.11Start35,030,470 bp[1]
End35,040,449 bp[1]
RNA expression pattern
PBB GE SCN1B 205508 at fs.png
More reference expression data
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

Location (UCSC)Chr 19: 35.03 – 35.04 MbChr 7: 31.12 – 31.13 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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105711 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019194 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: SCN1B sodium channel, voltage-gated, type I, beta".

Further reading[edit]

External links[edit]

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