CACNA1C wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CACNA1C wild-type allele is located in the vicinity of 12p13.33 and is approximately 727 kb in length. This allele, which encodes voltage-dependent L-type calcium channel subunit alpha-1C protein, plays a role in calcium ion release from the sarcomere, which regulates cardiac development, heart rhythm and blood pressure. Mutation of the gene is associated with Brugada syndrome 3, long QT syndrome 8, Timothy syndrome and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures.

**Synonyms:** - CACH2 - CACN2 - CACNL1A1 - CCHL1A1 - CaV1.2 - Calcium Channel, Cardic Dihydropyridine-Sensitive, Alpha-1 Subunit Gene - Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle Gene - Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit Gene - Calcium Channel, Voltage-Dependent, L Type, Alpha-1C Subunit Gene - Calcium Voltage-Gated Channel Subunit Alpha1 C wt Allele - DHPR, Alpha-1 Subunit Gene - LQT8 - NEDHLSS - TS - TS. LQT8 - Voltage-Dependent L-Type Ca2+ Channel Alpha 1 Subunit Gene