Ryanodine receptor (IPR013333)
Short name: Ryan_recept
Overlapping homologous superfamilies
- Ryanodine receptor (IPR013333)
- Ryanodine receptor 1 (IPR033215)
Ryanodine receptors are involved in communication between transverse-tubules and the sarcoplamic reticulum of cardiac and skeletal muscle. The proteins function as a Ca2+-release channels following depolarisation of transverse-tubules [PMID: 1645727]. The function is modulated by Ca2+, Mg2+, ATP and calmodulin. Deficiency in the ryanodine receptor may be the cause of malignant hyperthermia (MH) and of central core disease of muscle (CCD) [PMID: 7829078]. MH is an autosomal dominant disorder of skeletal muscle and is a principal cause of death due to anaesthesia.
Calcium release activity of the receptors resides in the C-terminal region of the protein, the remaining part of the molecule forming a 'foot' structure that spans the junctional gap between the sarcoplamic reticulum and the transverse-tubule. The foot structure may interact with the cytoplasmic region of the dihydropyridine receptor.
Analysis of the sequence reveals 10 potential transmembrane (TM) regions in the C-terminal fifth of the molecule and 2 further potential TM regions nearer to the centre [PMID: 2298749]. These may contribute to the formation of the Ca2+ conducting pore. The rest of the sequence is hydrophilic, and presumably constitutes the cytoplasmic domain of the protein.
- PR00795 (RYANODINER)