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Protein Coding Gene : Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4

Primary Identifier  MGI:2442632 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  319734
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and detection of light stimulus involved in visual perception. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; hippocampus; and telencephalon. Human ortholog(s) of this gene implicated in retinal cone dystrophy 4. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4).
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]
  • synonyms:
  • BE686333,
  • Cacna2d4,
  • 5730412N02Rik,
  • MGI:3529346,
  • RIKEN cDNA 5730412N02 gene,
  • expressed sequence BE686333,
  • calcium channel, voltage-dependent, alpha 2/delta subunit 4

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