RYR1

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Ryanodine receptor 1 (skeletal), also known as RYR1, is a human gene.

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.

See also

• Ryanodine receptor

Further reading

• Treves S, Anderson AA, Ducreux S; et al. (2005). "Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders". Neuromuscul. Disord. 15 (9–10): 577–87. doi:10.1016/j.nmd.2005.06.008. PMID 16084090.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• RYR1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.