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Protein Coding Gene : Cacnb4 calcium channel, voltage-dependent, beta 4 subunit
Primary Identifier  MGI:103301 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  12298
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including adult walking behavior; cellular response to leukemia inhibitory factor; and hematopoietic or lymphoid organ development. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse. Is expressed in brain; heart; and urinary system. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4).
PHENOTYPE: Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-24185,
  • MGI:1920370,
  • Cacnb4,
  • 3110038O15Rik,
  • RIKEN cDNA 3110038O15 gene,
  • calcium channel, voltage-dependent, beta 4 subunit,
  • lethargic,
  • calcium channel, B4 subunit,
  • Cchb4,
  • lh,
  • MGD-MRK-11801
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Trail: ProteinCodingGene

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Trail: ProteinCodingGene

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