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  • 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.
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