CACNA1H

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]

Description

Calcium voltage-gated channel subunit alpha1 H

Tissue specificity

Tissue enhanced (ovary)

Subcell location

Nucleoplasm, Vesicles

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

16 (1153106 - 1221771)

Ensembl ID

ENSG00000196557  (ver. 103.38)

Orthologs

Mouse Cacna1h: ENSMUSG00000024112

UniProt

O95180

neXtProt

NX_O95180

Human splice variants
Mouse splice variants

Protein structure