Primary Identifier | IPR033215 | Type | Family |
Short Name | RyR1 |
description | The function of skeletal muscle relies on the movement of Ca2+ out of and back into the storage compartment (SR). Ryanodine receptor 1 (RyR) functions as a Ca2+-release channels, releasing Ca2+ from the SR, resulting in muscle contraction [].Mutations in the RyR1 gene cause malignant hyperthermia 1 (MHS1), an autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia [, ]. |