CACNA1S wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CACNA1S wild-type allele is located in the vicinity of 1q32.1 and is approximately 73 kb in length. This allele, which encodes voltage-dependent L-type calcium channel subunit alpha-1S protein, is involved in skeletal muscle contraction. Mutation of the gene is associated with susceptibility to hypothermia and to two types of periodic paralysis, hypokalemic and thyrotoxic.

**Synonyms:** - CACH1 - CACN1 - CACNL1A3 - CCHL1A3 - Calcium Channel, L Type, Alpha 1 Polypeptide, Isoform 3 (Skeletal Muscle, Hypokalemic Periodic Paralysis) Gene - Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 3, Skeletal Muscle Gene - Calcium Channel, Skeletal Muscle Dihydropyridine-Sensitive, Alpha-1 Subunit Gene - Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit Gene - Calcium Channel, Voltage-Dependent, L Type, Alpha-1S Subunit Gene - Calcium Voltage-Gated Channel Subunit Alpha1 S wt Allele - Cav1.1 - HOKPP - HOKPP1 - MHS5 - TTPP1 - hypoPP