Gene: CACNA1G

Alternate names for this Gene: Ca(V)T.1|Cav3.1|NBR13|SCA42|SCA42ND

Gene Summary: Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.33

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

Type of Gene: protein-coding

rs117964204 in CACNA1G gene and Alzheimer's Disease PMID 23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.

rs755221106 in CACNA1G gene and SPINOCEREBELLAR ATAXIA 42 PMID 26456284 2015 A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

PMID 26715324 2015 A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

rs1555558553 in CACNA1G gene and SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS PMID 29878067 2018 De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.