CACNA2D4 explained

Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene.^[1]

Function

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Further reading

• Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W . Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy . American Journal of Human Genetics . 79 . 5 . 973–7 . November 2006 . 17033974 . 1698577 . 10.1086/508944 .
• Van Den Bossche MJ, Strazisar M, De Bruyne S, Bervoets C, Lenaerts AS, De Zutter S, Nordin A, Norrback KF, Goossens D, De Rijk P, Green EK, Grozeva D, Mendlewicz J, Craddock N, Sabbe BG, Adolfsson R, Souery D, Del-Favero J . Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders . American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics . 159B . 4 . 465–75 . June 2012 . 22488967 . 10.1002/ajmg.b.32053 . 20098593 .
• McGue M, Zhang Y, Miller MB, Basu S, Vrieze S, Hicks B, Malone S, Oetting WS, Iacono WG . A genome-wide association study of behavioral disinhibition . Behavior Genetics . 43 . 5 . 363–73 . September 2013 . 23942779 . 3886341 . 10.1007/s10519-013-9606-x .
• Qin N, Yagel S, Momplaisir ML, Codd EE, D'Andrea MR . Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit . Molecular Pharmacology . 62 . 3 . 485–96 . September 2002 . 12181424 . 10.1124/mol.62.3.485 .

Notes and References

1. Web site: Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 4 .