Aliases: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Chromosome No: 3
Chromosome Band: 3p22.2
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ions may pass in accordance with their electrochemical gradient. Mutations in this gene are associated with progressive familial heart block 1A (PFHB1A) [MIM:113900] and long QT syndrome 3 (LQT3) [MIM:603830].
External Links
