RYR1

(redirected from MHS1)

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 ?
1 as the primary locus for MH susceptibility (MHS) (8-10) (designated the MHS1 locus; OMIM 145600).
In addition to the MHS1 locus, five other loci (MHS2 to MHS6; OMIM 154275, 154276, 600467, 601887, and 601888, respectively) have been tentatively identified by linkage analysis (14-17).
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.