Reagents, Molecular Assay, Gene Anomaly, Mutation, CACNA1S
Definition : Molecular assay reagents intended to identify mutations in the calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), located at chromosome 1q32, which encodes for the alpha-1S subunit of L-type calcium channels that are involved in excitation-contraction coupling in skeletal muscle. Mutations at this locus have been identified in most patients with hyperkalemic periodic paralysis (HKPP) and malignant hyperthermia susceptibility 5 (MHS5).
Entry Terms : "Malignant Hyperthermia Gene Mutation Detection Reagents" , "Hypokalemic Periodic Paralysis (HKPP) Type 1 Gene Mutation Detection Reagents" , "CACNA1S Gene Mutation Detection Reagents"
UMDC code : 24326