CACNA1H, Official Symbol CACNA1Hprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Hprovided by HGNC Primary source HGNC:HGNC:1395 See related Ensembl:ENSG00000196557 MIM:607904; AllianceGenome:HGNC:1395 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECA6; EIG6; HALD4; Cav3.2; CACNA1HB Summary 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] Expression Broad expression in ovary (RPKM 20.0), endometrium (RPKM 11.7) and 19 other tissues See more Orthologs mouse all