CACNA1G calcium voltage-gated channel subunit alpha1 G
Gene ID: 8913, updated on 7-Apr-2024Gene type: protein coding
Also known as: NBR13; SCA42; Cav3.1; SCA42ND; Ca(V)T.1
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- Go to complete Gene record for CACNA1G
- Go to Variation Viewer for CACNA1G variants
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. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. GeneReviews: Not available | |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | See labs |
| Spinocerebellar ataxia type 42 | See labs |
Genomic context
- Location:
- 17q21.33
- Sequence:
- Chromosome: 17; NC_000017.11 (50560715..50627474)
- Total number of exons:
- 38
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNA1G variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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