CACNA1S calcium voltage-gated channel subunit alpha1 S
Gene ID: 779, updated on 18-Jul-2024Gene type: protein coding
Also known as: MHS5; DHPRM; HOKPP; TTPP1; CMYO18; CMYP18; Cav1.1; HOKPP1; hypoPP; CCHL1A3; CACNL1A3
- See all available tests in GTR for this gene
- Go to complete Gene record for CACNA1S
- Go to Variation Viewer for CACNA1S variants
Summary
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myopathy 18 | not available |
| Genome-wide association study identifies four loci associated with eruption of permanent teeth. GeneReviews: Not available | |
| Hypokalemic periodic paralysis, type 1 | See labs |
| Malignant hyperthermia, susceptibility to, 5 | See labs |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2016-01-18) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2016-01-18) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (201039512..201112426, complement)
- Total number of exons:
- 44
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNA1S variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S) @ LOVD
- 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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