2024年12月25日 · RYR3 (Ryanodine Receptor 3) is a Protein Coding gene. Diseases associated with RYR3 include Congenital Myopathy 20 and Hydrops Fetalis. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calmodulin binding.

Ryanodine receptor 3 is one of a class of ryanodine receptors and a protein that in humans is encoded by the RYR3 gene. [5] The protein encoded by this gene is both a calcium channel and a receptor for the plant alkaloid ryanodine. RYR3 and RYR1 control the resting calcium ion concentration in skeletal muscle. [6]

该基因编码的蛋白质是兰尼碱受体，其功能是从细胞内储存中释放钙，用于许多细胞过程。 例如，编码的蛋白质通过从肌质网释放钙，然后使 T 管去极化，从而参与骨骼肌收缩。 已发现该基因的两个转录本变体编码不同的亚型。 [RefSeq 提供，2011 年 9 月] The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes.

2024年10月5日 · RyR3 has a unique functional profile with a very high sensitivity to activating ligands, enabling high gain in Ca 2+ -induced Ca 2+ release. Here we solve high-resolution cryo-EM...

The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain, and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.

2024年8月16日 · Background: The ryanodine receptor 3 (RYR3) is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum and subsequent T-tubule depolarization. It is also expressed in the brain, and variants in the RYR3 gene can lead to congenital myopathy type 20 (MIM: #620310).

RYR3 variants are associated with risk of and age of onset for hypertension, diabetes, and Alzheimer disease. The Ryr Ca2+ release channel is central to cytoplasmic Ca2+ signalling in skeletal muscle, the heart, and many other tissues, playing a vital role in muscular contraction.

2025年1月4日 · RyR3 is a very potent source of voltage-independent Ca2+ release activity in adult mouse skeletal muscle fibres. Kinetic analysis reveals that systemic ablation of RyR3 results in significant changes to the initiation, duration and amplitude of individual Ca2+ sparks in …

Ryanodine受体3基因（RYR3）编码RYR，其功能是释放储存的内质网钙离子（Ca2 +），以增加细胞内Ca2 +的浓度。 越来越多的研究表明，细胞内Ca2 +水平的改变会影响心脏收缩，胰岛素分泌和神经退行性变。

RyRs exist in three isoforms (RyR 1-3) and are named after the plant alkaloid ryanodine, which binds to RyRs with high affinity and specificity and displays preferential interactions with the open state of the channel allowing its usage to evaluate the functional state of the channel (Imagawa et al. 1987; Inui et al. 1987; Lai et al. 1988; Chu e...