Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables enzyme binding activity and voltage-gated calcium channel activity involved in cardiac muscle cell action potential. Involved in positive regulation of adenylate cyclase activity. Acts upstream of or within several processes, including adult walking behavior; regulation of blood circulation; and secretion by cell. Located in several cellular components, including T-tubule; Z disc; and dendritic shaft. Part of caveolar macromolecular signaling complex and voltage-gated calcium channel complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and heart. Used to study Timothy syndrome. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C).
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