Entrez gene ID | | 777 |
Official gene symbol | | CACNA1E |
Full name | | calcium channel, voltage-dependent, R type, alpha 1E subunit |
Aliases | | ,BII,CACH6,CACNL1A6,Cav2.3, |
Gene summary | | This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q25-q31 |
Gene position | | 181452716 - 181770716 Map Viewer |
Gene orientation | | plus |
Gene size | | 318001 bp |
Gene sequence |
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OMIM ID | | 601013 |
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