Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCN3A contributors: mct - updated : 18-12-2018
HGNC name sodium channel, voltage-gated, type III, alpha
HGNC id 10590
ASSOCIATED DISORDERS
corresponding disease(s) DEL2Q24 , EIEE62 , FFEV4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
of SCN3A caused by reduced protein expression or deficient trafficking to the plasma membrane may contribute to increased seizure susceptibility
Susceptibility to epilepsy
Variant & Polymorphism other mutation linked to epilepsy increases ramp and persistent current of SCN3A and induces hyperexcitability in hippocampal neurons (Holland 2008)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS