QuickView for ryanodine receptor (biogroup)

Description:: Ryanodine receptors are involved in communication between transverse-tubulesand the sarcoplamic reticulum of cardiac and skeletal muscle. The proteinsfunction as a Ca2+-release channels following depolarisation of transverse-tubules. The function is modulated by Ca2+, Mg2+, ATP and calmodulin.Deficiency in the ryanodine receptor may be the cause of malignanthyperthermia (MH) and of central core disease of muscle (CCD). MH isan autosomal dominant disorder of skeletal muscle and is a principalcause of death due to anaesthesia.Calcium release activity of the receptors resides in the C-terminal regionof the protein, the remaining part of the molecule forming a 'foot'structure that spans the junctional gap between the sarcoplamic reticulumand the transverse-tubule. The foot structure may interact with thecytoplasmic region of the dihydropyridine receptor.Analysis of the sequence reveals 10 potential transmembrane (TM) regionsin the C-terminal fifth of the molecule and 2 further potential TM regionsnearer to the centre. These may contribute to the formation of the Ca2+conducting pore. The rest of the sequence is hydrophilic, and presumablyconstitutes the cytoplasmic domain of the protein.
Taxonomy/Path:: InterPro : Ryanodine receptor-related / Ryanodine receptor

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