菜单 基因医生

这个基因编码一种在骨骼肌中发现的ryanodine受体。编码蛋白在肌浆网中起钙释放通道的作用，同时也连接肌浆网和横小管该基因突变与恶性高热易感性、中枢性心脏病和伴外眼肌麻痹的小中枢性肌病有关。另外，还描述了编码不同亚型的剪接转录本。[由RefSeq提供，2008年7月]
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]