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]

  • Response to hypoxia
  • Outflow tract morphogenesis
  • Ion transport
  • Calcium ion transport
  • Cellular calcium ion homeostasis
  • Malignant hyperthermia 1
  • Minicore myopathy with external ophthalmoplegia
  • Central core disease of muscle
  • Malignant hyperthermia
  • Central core myopathy
  • Other Cardiac Condtions

Based on Ayass Bioscience, LLC Data Analysis

Structure of the RYR1 protein.

Gene Location

Pathogenic Prevalence

% 0.153217568947906

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants