菜单 基因医生

该基因编码的蛋白质是一种ryanodine受体,其功能是从细胞内储存释放钙,用于许多细胞过程。例如,编码的蛋白质通过从肌浆网释放钙,然后T管去极化,参与骨骼肌收缩。已经发现了两个编码不同亚型的转录变体。[由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. 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]

基因名:RYR3
别名:RYR-3
基因ID:6263
Chromosome:
(GRCh37)
15 Start: 33603177 End: 34158304 Strand: 
信号通路:  
RYR3 基因突变与药物