CACHD1 Products

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 protein; Miscellaneous: In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.

Bioinformatics

Entrez	320508 Mouse 57685 Human
Uniprot	Q5VU97 Human
Product By Gene ID	57685
Alternate Names	cache domain containing 1 Cache domain-containing protein 1 KIAA1573VWFA and cache domain-containing protein 1 RP4-655E10.1 von Willebrand factor type A and cache domain containing 1 VWCD1