RYR1 ryanodine receptor 1
Gene ID: 6261, updated on 22-Apr-2024Gene type: protein coding
Also known as: CCO; KDS; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; CMYP1A; CMYP1B; PPP1R137
- See all available tests in GTR for this gene
- Go to complete Gene record for RYR1
- Go to Variation Viewer for RYR1 variants
Summary
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Central core myopathy | See labs |
| Congenital multicore myopathy with external ophthalmoplegia | See labs |
| Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
| King Denborough syndrome | See labs |
| Malignant hyperthermia, susceptibility to, 1 | See labs |
| Statin-induced myopathy MedGen: CN181199GeneReviews: Not available | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-12) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-12) ClinGen Genome Curation Page |
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (38433691..38587564)
- Total number of exons:
- 106
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RYR1 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
- RYR1 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.