SCN3A gene, encoding sodium channel protein type 3 subunit alpha (SCN3A) locates on human chromosome 2q24. The molecular mass of the protein is 226 kDa. The protein contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. SCN3A with 24 transmembrane domains can combine one or more regulatory beta subunits to form voltage-gated sodium channel.
|Basic Information of SCN3A|
|Protein Name||Sodium channel protein type 3 subunit alpha|
|Gene Name||SCN3A, KIAA1356, NAC3|
|Aliases||Sodium channel protein brain III subunit alpha, Sodium channel protein type III subunit alpha, Voltage-gated sodium channel subtype III, Voltage-gated sodium channel subunit alpha Nav1.3|
|Organism||Homo sapiens (Human)|
SCN3A is mainly localized in the central nervous system (CNS) and plays a critical role in brain development. SCN3A is abundantly expressed in the embryonic brain tissues and gradually decreases to a very low level during the postnatal development. Several studies have shown that SCN3A expression is significantly increased in human epilepsy and seizure models. Functional studies demonstrate that, compared with SCN1A, those neurons expressing SCN3A have a lower threshold and/or a higher frequency of firing. There are several diseases associated with SCN3A including trigeminal neuralgia and deafness, autosomal dominant 16. Among its related pathways are cardiac conduction and L1CAM interactions.
Fig.1 Roles of voltage-gated Na+ channels in taste cells. (Vandenbeuch, 2009)
This article indicates that, of all the CNS-expressed sodium channel genes, only Scn3a expression is altered regulated by CpG methylation and MBD2 is significantly upregulated in seizure mice.
This article suggests that common SCN1A, SCN2A or SCN3A variants are not strongly associated with resistance to AEDs.
This article suggests that mutations in SCN2A and SCN3A genes are significantly associated with the autistic features, psychomotor delay, microcephaly and no history of seizures.
This article reveals that the GC box may be an important factor in regulating the mouse Scn3a gene expression in the CNS.
This article suggests that haploinsufficiency of SCN2A may be involved in the ental retardation, neurobehavioral and psychiatric abnormalities.
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