CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3
Gene ID: 10368, updated on 2-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for CACNG3
- Go to Variation Viewer for CACNG3 variants
Summary
The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
Genomic context
- Location:
- 16p12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (24256335..24362412)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNG3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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