RYR1


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RYR1

A gene on chromosome 19q13.1 that encodes a ryanodine receptor found in skeletal muscle, which acts as a calcium channel connecting the sarcoplasmic reticulum and transverse tubules.

Molecular pathology
RYR1 mutations are linked to malignant hyperthermia susceptibility, central core disease and minicore myopathy with external ophthalmoplegia.
References in periodicals archive ?
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
The positions are conserved in all known vertebrate RYR1 genes (Fig.
Overall, seven different RYR1 gene mutations were detected in 11 unrelated MHS families, which accounted for ~21% of the screened population, including MHE + MHS kindreds (Table 2).
50] for each RYR1 activator were obtained for each myotube by fitting a nonlinear regression with a variable slope sigmoid curve using Prism (GraphPad Software, La Jolla, USA).
50] for the three RYR1 activators, and between CICR rate and [EC.
2+] channel) acts as a voltage sensor, and stimulates RYR1 without significant [Ca.
In addition, a previous report showed that propofol is more sensitive to DHPR than RYR1 (21).
Primer pairs were prepared for exons 1, 2, 3, 4-5, 6, 7, 8-9, 10-11, 12, 13, 14-16, 17, 18, 19, 20, 38, 39, 40-41, 42, 43, 44, 45, 46-47, 85-87, 98-99, 100-101, 102, 103-104 of the RYR1 gene which account for the 'hot-spots' of known MH causative mutations.
Haplotype analysis was carried out using the chromosome 19 microsatellite repeat sequence markers D19S228, D19S557, D19S897, D19S421, D19S422, D19S881(10), flanking the RYR1 locus.
The myotubes also shared functional properties with striated skeletal muscle cells, such as calcium release via RYR1.
In our study using myotubes, we investigated not only the function of RYR1 but also the total calcium regulation of whole cell and showed that calcium concentrations rose at propofol levels lower than 500 [micro]M.