CACHD1 Proteins and Enzymes

FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Defects in CACNA2D4 are the cause of retinal cone dystrophy 4 (RCD4). RCD4 is characterized by minimal symptoms except for slowly progressive reduction in visual acuity.; Tissue specificity: Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the ...