Preferred Label : CACNA1A wt Allele;
NCIt synonyms : Calcium Voltage-Gated Channel Subunit Alpha1 A wt Allele; MHP1; CAV2.1; CACNL1A4; Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit Gene; EIEE42; BI; Fetal Brain Ca2 Voltage-Gated Channel Alpha1A Pore-Forming Subunit Gene; CACN3; FHM; APCA; CACH4; Calcium Channel, L Type, Alpha-1 Polypeptide Gene; Calcium Channel, Voltage-Dependent, P/Q Type, Alpha-1A Subunit Gene; MHP; Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 Gene; EA2; DEE42; SCA6; HPCA;
NCIt definition : Human CACNA1A wild-type allele is located in the vicinity of 19p13.13 and is approximately
427 kb in length. This allele, which encodes voltage-dependent P/Q-type calcium channel
subunit alpha-1A protein, is involved in voltage-dependent calcium transport. Mutation
of the gene is associated with developmental and epileptic encephalopathy 42, familial
hemiplegic migraine 1 and episodic ataxia 2. Expansion of the (CAG)n-repeats in the
coding region, which encode a polyglutamine tract, from the normal 4-18 to 21-33 is
associated with spinocerebellar ataxia 6.;
NCI Metathesaurus CUI : CL1904777;
GenBank Accession Number : U79666;
Origin ID : C191381;
UMLS CUI : C5780953;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
