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CACNA1H |
LOCUS ID | 8912 | ||||||||||
GENE_SYMBOL | CACNA1H | ||||||||||
GENE NAME | calcium voltage-gated channel subunit alpha1 H | ||||||||||
SYNONYMNS | ECA6, EIG6, Cav3.2, CACNA1HB | ||||||||||
CHROMOSOME | 16 | ||||||||||
HOMOLOGENE ID | 56913 |
microRNAs | NA | NA |
GENE SUMMARY |
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This gene encodes a T-type member of the alpha-1 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. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] |
OBSERVATIONS |
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Complication | Evidence | PMID |
Neuropathy | 1. CaV3.2 T-type voltage-gated calcium channels (T-channels) play a key role in the sensitized (hyperexcitable) state of nociceptive sensory neurons (nociceptors) in response to hyperglycemia associated with diabetes, which in turn can be a basis for painful symptoms of peripheral diabetic neuropathy (PDN). | 23835327 |