SCN4A
Homo sapiens
Gene Name: Sodium channel, voltage gated, type IV alpha subunit
Aliases: CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Chromosome No: 17
Chromosome Band: 17q23.3
Genetic Category: Rare single gene variant
Aliases: CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Chromosome No: 17
Chromosome Band: 17q23.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the SCN4A gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.17) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes and may be present in both denervated and innervated skeletal muscle. Mutations in this gene have been linked to several myotonia and periodic paralysis disorders.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Muscular abnormalities
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD