Gene: CACNA1E

Alternate names for this Gene: BII|CACH6|CACNL1A6|Cav2.3|EIEE69|gm139

Gene Summary: Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: calcium voltage-gated channel subunit alpha1 E

Type of Gene: protein-coding

Gene: LOC107985232

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rs10910937 in CACNA1E;LOC107985232 gene and Amblyopia PMID 30098192 2018 Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.