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Description
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 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).Subcellular location: Membrane, Single-pass type I membrane proteinMiscellaneous: In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug. Also known as: VWFA and cache domain-containing protein 1, Cache domain-containing protein 1.
Immunogen
A synthetic peptide from aa region 1120-1170 of human CACHD1 conjugated to blue carrier protein was used as the antigen. The peptide is homologous in mouse.