Aliases for RYR3 Gene
External Ids for RYR3 Gene
Previous GeneCards Identifiers for RYR3 Gene
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
GeneCards Summary for RYR3 Gene
RYR3 (Ryanodine Receptor 3) is a Protein Coding gene. Diseases associated with RYR3 include central core myopathy 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 RYR1.
UniProtKB/Swiss-Prot for RYR3 Gene
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling.
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.