Gene: CACNA1H

Alternate names for this Gene: CACNA1HB|Cav3.2|ECA6|EIG6|HALD4

Gene 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).

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: calcium voltage-gated channel subunit alpha1 H

Type of Gene: protein-coding

rs3751664 in CACNA1H gene and Blood Pressure PMID 21378095 2011 Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.

rs10438679 in CACNA1H gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs8049080 in CACNA1H gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1288484976 in CACNA1H gene and EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 PMID 30197081 2018 Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

PMID 24277868 2014 Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

PMID 12891677 2003 Association between genetic variation of CACNA1H and childhood absence epilepsy.

PMID 15048902 2004 Genetic variation of CACNA1H in idiopathic generalized epilepsy.

rs35482321 in CACNA1H gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs759924732 in CACNA1H gene and HYPERALDOSTERONISM, FAMILIAL, TYPE IV PMID 27729216 2016 CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.

PMID 25907736 2015 Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

rs2050114 in CACNA1H gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.