| Protein Name | ryanodine receptor 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 6261 |
| Gene Symbol | RYR1 |
| UniProt | P21817 (RYR1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
451
Total Number of Articles : 708 |
Description |
ryanodine receptor 1 |
| Gene 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] |
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| Properties | |