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 ?
Several genes were highlighted due to their known association with growth and production, including TGFB3, ACSL1, RYR1, ACOX2, PPARG2, NTN1, RIN2, MAPRE1, ADAMTS2, MYOM1, ZDHHC13, and SH3PXD2B.
Biochemical, ECF18R, and RYR1 gene polymorphisms and their associations with osteochondral diseases and production traits in pigs.
The DNA sequencing templates were PCR amplified from the Sus scrofa strain Yorkshire RYR1 gene (Accession M91456.
Hybridization probes for genotyping RYR1 gene whose mutation C1843T (Arg615Cys) is associated with PSS -susceptibility, were designed and obtained from Roche Molecular Biochemical [R].
We confirmed that cells cultured under these conditions acquire skeletal muscle-specific proteins such as sarcomeric [alpha]-actinin and RYR1 by indirect immunofluorescent staining (data not shown).
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).
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
Thus, it appears that only high concentrations of propofol affect RYR1 as an agonist.
Twenty-eight primer pairs were designed to amplify selected RYR1 gene fragments (including intron/exon junctions) (20).
The RYR1 gene is very large (contains a total of 106 exons and 15,000 bases of coding sequence).
This study also revealed two RYR1 mutations segregating with MHS in the same family.
genetic analysis demonstrated a RYR1 mutation of 14642C [right arrow] G, resulting in the amino acid change L4838V in exon 101.