| Gene Symbol |
RYR1
|
| Gene Synonyms |
CCO KDS MHS RYR MHS1 RYDR SKRR RYR-1 CMYO1A CMYO1B CMYP1A CMYP1B PPP1R137 |
| Gene Full Name |
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] |
| Alternative Names |
CCO Central core disease of muscle MHS MHS1 PPP1R137 Protein phosphatase 1 regulatory subunit 137 Ryanodine receptor 1 RYDR RYR RYR-1 RyR1 RYR1_HUMAN sarcoplasmic reticulum calcium release channel Skeletal muscle calcium release channel Skeletal muscle ryanodine receptor Skeletal muscle-type ryanodine receptor SKRR Type 1 ryanodine receptor
|
| Molecular Weight(MW) |
565 kDa |
| Cellular Localization |
Sarcoplasmic reticulum membrane |