QuickView for CACNA1H (gene)

Gene Symbol:

CACNA1H Homo sapiens

Full name:

calcium voltage-gated channel subunit alpha1 H

Synonyms:

CACNA1HB, Cav3.2, ECA6, EIG6, HALD4, voltage-dependent T-type calcium channel subunit alpha-1H, calcium channel, voltage-dependent, T type, alpha 1H subunit, calcium channel, voltage-dependent, T type, alpha 1Hb subunit, low-voltage-activated calcium channel alpha1 3.2 subunit, low-voltage-activated calcium channel alpha13.2 subunit, voltage dependent t-type calcium channel alpha-1H subunit, voltage-gated calcium channel alpha subunit Cav3.2, voltage-gated calcium channel alpha subunit CavT.2, voltage-gated calcium channel subunit alpha Cav3.2

Genomic Location:

Chr 16: 1143242-1211773

Description:

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 transmem...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_Q6_01 ,  CAGGTG_E12_Q6 ,  HNF3B_01 ,  E47_01 ,  MSX1_01 ,  CAGCTG_AP4_Q5 ,  AACTTT_UNKNOWN

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-490

Cytogenetic Map:

16p13.3

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