Preferred Label : SCN8A wt Allele;
NCIt synonyms : MED; Sodium Channel, Voltage-Gated, Type VIII, Alpha Subunit Gene; Sodium Voltage-Gated Channel, Alpha Subunit 8 Gene; PN4; CerIII; Sodium Voltage-Gated Channel Alpha Subunit 8 wt Allele; Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide Gene; DEE13; BFIS5; Voltage-Gated Sodium Channel Type VIII Alpha Protein Gene; Sodium Channel, Voltage Gated, Type VIII Alpha Subunit Gene; HNa6/Scn8a Voltage-Gated Sodium Channel Gene; Nav1.6; CIAT; Sodium Channel Protein Type VIII Subunit Alpha Gene; NaCh6; Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit Gene; MYOCL2; EIEE13;
NCIt definition : Human SCN8A wild-type allele is located in the vicinity of 12q13.13 and is approximately
223 kb in length. This allele, which encodes sodium channel protein type 8 subunit
alpha protein, may play a role in both neuronal excitation and macrophage migration.
Mutation of the gene is associated with familial myoclonus 2, developmental and epileptic
encephalopathy 13, benign familial infantile seizures 5 and cognitive impairment with
or without cerebellar ataxia.;
NCI Metathesaurus CUI : CL1799304;
GenBank Accession Number : AB027567;
Origin ID : C190832;
UMLS CUI : C5781216;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
