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SCN3A

SCN3A
Protein SCN3A PDB 1byy.png
Identifiers
AliasesSCN3A, NAC3, Nav1.3, sodium voltage-gated channel alpha subunit 3, FFEVF4, EIEE62
External IDsOMIM: 182391 MGI: 98249 HomoloGene: 56005 GeneCards: SCN3A
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SCN3A
Genomic location for SCN3A
Band2q24.3Start165,087,522 bp[1]
End165,204,067 bp[1]
RNA expression pattern
PBB GE SCN3A 210432 s at fs.png
More reference expression data
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: 65.46 – 65.57 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 Nav1.3 gene.[5]

Function

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.[5]

SCN3A is involved in folding the human cerebral cortex, a process called "gyrification", and affects speech production brain areas.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000153253 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057182 - 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. ^ a b "Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit".
  6. ^ 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. PMID 30146301.

Further reading

External links

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