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 ?
Six genetic loci (MHS1, OMIM #180901; MHS2, OMIM #154275; MHS3, OMIM #154276; MHS4, OMIM #600467; MHS5, OMIM #601887; MHS6, OMIM #601888-6), associated with MH, have been identified.
Material type Thickness Specimen size (mm) (mm by mm) Solid wood (SW), southern pine 19 89 by 508 Plywood (PLW), southern pine 12 76 by 432 OSB--Mixed hardwood sheathing 1 (MHS1) 12 76 by 330 Mixed hardwood sheathing 2 (MHS2) 11 76 by 318 Southern pine sheathing 1 (SPS1) 12 76 by 330 Southern pine sheathing 2 (SPS2) 11 76 by 318 Southern pine flooring (SPF) 18 76 by 483 Particleboard (PB), southern pine 16 76 by 330 Table 2.
1), which roughly correspond to the RYR1 regions targeted by mutations causing malignant hyperthermia (MHS1; OMIM 145600) or central core disease (CCD; OMIM 117000) (14-29).
Contract notice: Modernization of a security banknote paper machine, mhs1.
MHS1 is a secure machine banknote paper, delivered by the Kurz company and commissioned in October 2002.
Molecular genetic studies have established the ryanodine receptor gene (RYR1) on chromosome 19q13.1 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).