RYR1
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1316413
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资源简介：
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]
本基因编码一种存在于骨骼肌中的ryanodine受体。编码的蛋白质作为肌浆网的钙释放通道发挥作用，同时亦连接肌浆网与横管。该基因的突变与恶性高热易感性、中心核病以及伴外眼肌麻痹的迷你核肌病相关。此外，已描述了编码不同亚型的选择性剪接转录本。[由RefSeq提供，2008年7月]
提供机构：
Rat Genome Database
