Cacna2d4 Polyclonal Antibody

disease:Defects in CACNA2D4 are the cause of retinal cone dystrophy 4 (RCD4) [MIM:610478]. RCD4 is characterized by minimal symptoms except for slowly progressive reduction in visual acuity.,domain:The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.,function:The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.,miscellaneous:In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.,PTM:May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role.,similarity:Belongs to the calcium channel subunit alpha-2/delta family.,similarity:Contains 1 cache domain.,similarity:Contains 1 VWFA domain.,subunit:Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (Probable). Interacts with CACNA1C and CACNB3.,tissue specificity:Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophiles of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level).,