Calcium Channel, Voltage Dependent, T-Type, Alpha 1H Subunit (CACNa1H)

CACNA1HB; Cav3.2; Low-voltage-activated calcium channel alpha1 3.2 subunit; Voltage-gated calcium channel subunit alpha Cav3.2

SPN	R558
HGNC	1395
MGI	1928842
PubMed	16754686
RGD	68943
UniProt	O95180
Wiki	CACNA1H

CACNa1H 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).

Reference

"Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family."
Circ. Res. 83:103-109(1998) [PubMed] [Europe PMC] [Abstract]

"Structure and functional characterization of a novel human low-voltage activated calcium channel."
J. Neurochem. 72:791-799(1999) [PubMed] [Europe PMC] [Abstract]

"Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms."
J. Biol. Chem. 277:8449-8456(2002) [PubMed] [Europe PMC] [Abstract]

"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]

"The sequence and analysis of duplication-rich human chromosome 16."
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]

"Structural determinants of the high affinity extracellular zinc binding site on Cav3.2 T-type calcium channels."
J. Biol. Chem. 285:3271-3281(2010) [PubMed] [Europe PMC] [Abstract]

"Association between genetic variation of CACNA1H and childhood absence epilepsy."
Ann. Neurol. 54:239-243(2003) [PubMed] [Europe PMC] [Abstract]

"Genetic variation of CACNA1H in idiopathic generalized epilepsy."
Ann. Neurol. 55:595-596(2004) [PubMed] [Europe PMC] [Abstract]