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SCN3A

From Wikipedia, the free encyclopedia

SCN3A
Identifiers
AliasesSCN3A, NAC3, Nav1.3, sodium voltage-gated channel alpha subunit 3, FFEVF4, EIEE62, DEE62
External IDsOMIM: 182391; MGI: 98249; HomoloGene: 56005; GeneCards: SCN3A; OMA:SCN3A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081676
NM_001081677
NM_006922

RefSeq (protein)

NP_001075145
NP_001075146
NP_008853

Location (UCSC)Chr 2: 165.09 – 165.2 MbChr 2: 65.29 – 65.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the SCN3A gene.[5][6]

Function

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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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[6]

SCN3A is involved in gyrification – the folding of the human cerebral cortex, and affects speech production brain areas.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153253Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057182Ensembl, 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. ^ "UniProt". www.uniprot.org. Retrieved 24 July 2022.
  6. ^ a b "Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit".
  7. ^ Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018). "Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development". Neuron. 99 (5): 905–913.e7. doi:10.1016/j.neuron.2018.07.052. PMC 6226006. PMID 30146301.

Further reading

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