Symbol: Name: ID: |
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit GFS:3391 |
Gene name: | CACNA1H |
Chromosome: | 16p13.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | Cav3.2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1928842 | Rat Genome Database ID: | RGD:68943 |
HGNC ID: | HGNC:1395 | RefSeq IDs: | NM_001005407 |
Entrez Gene ID: | 8912 | Ensembl Gene ID: | ENSG00000196557 |
VEGA IDs: | UniProt ID: | O95180 | |
UCSC ID: | uc002cks.2 | OMIM ID: | 607904 |
Pubmed: | PMID9670923 PMID 16382099 | ||
CCDS IDs: | CCDSCCDS45375.1 CCDS CCDS45376.1 |
Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the CACNA1H gene.
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].
Products for CACNA1H gene
Catalog | Product Name | Application | Company |
GFS:E03391 | calcium channel, voltage-dependent, T type, alpha 1H subunit; ELISA kit | ELISA | n/a |
GFS:A03391 | calcium channel, voltage-dependent, T type, alpha 1H subunit; Anti | ANTIBODIES | n/a |
GFS:P03391 | calcium channel, voltage-dependent, T type, alpha 1H subunit; Protien | Protien | n/a |