CACNA1A wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - APCA - BI - CACH4 - CACN3 - CACNL1A4 - CAV2.1 - Calcium Channel, L Type, Alpha-1 Polypeptide Gene - Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 Gene - Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit Gene - Calcium Channel, Voltage-Dependent, P/Q Type, Alpha-1A Subunit Gene - Calcium Voltage-Gated Channel Subunit Alpha1 A wt Allele - DEE42 - EA2 - EIEE42 - FHM - Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit Gene - HPCA - MHP - MHP1 - SCA6