RYR1

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

PBB_Summary
section_title =
summary_text = 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. [cite web | title = Entrez Gene: RYR1 ryanodine receptor 1 (skeletal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6261| accessdate = ]

ee also

* Ryanodine receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Treves S, Anderson AA, Ducreux S, "et al." |title=Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. |journal=Neuromuscul. Disord. |volume=15 |issue= 9-10 |pages= 577–87 |year= 2005 |pmid= 16084090 |doi= 10.1016/j.nmd.2005.06.008

External links

*

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