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RYR1 ryanodine receptor 1

Gene ID: 6261, updated on 21-Mar-2023
Gene type: protein coding
Also known as: CCO; KDS; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; CMYP1A; CMYP1B; PPP1R137


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]

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-12)

ClinGen Genome Curation Page

No evidence available (Last evaluated 2015-11-12)

ClinGen Genome Curation Page

Genomic context

Chromosome: 19; NC_000019.10 (38433691..38587564)
Total number of exons:


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