2024年11月18日 · RYR1 -related diseases affect skeletal muscle and are caused by changes (variants) in the RYR1 gene 1. RYR1 variants are the most common cause of muscle weakness present from birth (congenital myopathy).

2025年3月30日 · RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include King-Denborough Syndrome and Congenital Myopathy 1A, Autosomal Dominant, With Malignant Hyperthermia. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction.

Ryanodine receptor type 1-related myopathies (RYR1 -RM) are the most common class of congenital myopathies. Historically, RYR1 -RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy.

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is one of a class of ryanodine receptors and a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene. [1][2]

The RYR-1 Foundation is a non-profit, 501 (c) (3) public charity, which was started by members of the Goldberg Family, who have been affected by an RYR-1-related disease. Currently, there is no other organization that exists solely to advocate for and serve the needs of patients and families affected by RYR-1-Related Diseases (RYR-1-RD).

The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). Learn about this gene and related health conditions.

2014年12月30日 · 跨膜区的高分辨率及高质量密度揭示了RyR1识别钙离子的机理及其高通量运输钙离子的分子基础。 整体结构分析显示了庞大的细胞质结构域的层级结构组织特征以及调控通道开关的可能机制。

RYR-1-Related Diseases (RYR-1-RD) are inherited forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and rhabdomyolysis.

该论文在离子通道领域有两方面全新发现：（1）与一般认为离子通道的6次跨膜螺旋不同，发现ryanodinereceptor (RyR)/钙释放通道多一条跨膜螺旋，为7次跨膜螺旋，研究组将该螺旋命名为S0；（2）S0螺旋为RyR/钙释放通道门控的关键部件：只有在S0螺旋与其余6个螺旋发生结构耦联，离子通道才能被激动剂（Ca2+/ATP）激活而完全开放；如果S0螺旋与其余6个螺旋解耦联，离子通道只能被激动剂（Ca2+/ATP）激活到前开放（Primed/Pre-open）状态。 该研究解决 …

该基因编码在骨骼肌中发现的兰尼碱受体。 编码的蛋白质在肌浆网中起钙释放通道的作用，但也用于连接肌浆网和横管。 该基因的突变与恶性高热易感性、中央核心疾病和伴有外眼肌麻痹的小核心肌病有关。 已经描述了编码不同亚型的选择性剪接转录本。 [RefSeq 提供，2008 年 7 月] This gene encodes a ryanodine receptor found in skeletal muscle.