Aliases for RYR1 Gene
- Ryanodine Receptor 1 (Skeletal) 2 3
- Skeletal Muscle Calcium Release Channel 3 4
- Skeletal Muscle Ryanodine Receptor 3 4
- Central Core Disease Of Muscle 2 3
- RYR-1 3 4
- RYDR 3 4
- Sarcoplasmic Reticulum Calcium Release Channel 3
- Protein Phosphatase 1, Regulatory Subunit 137 3
- Skeletal Muscle-Type Ryanodine Receptor 4
- Type 1-Like Ryanodine Receptor 3
- Type 1 Ryanodine Receptor 4
External Ids for RYR1 Gene
Previous HGNC Symbols for RYR1 Gene
Previous GeneCards Identifiers for RYR1 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for RYR1 Gene
RYR1 (Ryanodine Receptor 1 (Skeletal)) is a Protein Coding gene. Diseases associated with RYR1 include malignant hyperthermia and central core disease. Among its related pathways are Activation of cAMP-Dependent PKA and CREB Pathway. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is RYR3.
UniProtKB/Swiss-Prot for RYR1 Gene
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).
The ryanodine receptors (RyRs) are a family of Ca2+ channels that mediate the release of Ca2+ from intracellular Ca2+ storage organelles. Three RyR isoforms have been identified to date, RyR1, RyR2 and RyR3, roles of which include contraction, secretion and synaptic transmission.