RYR1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RYR1 wild-type allele is located in the vicinity of 19q13.2 and is approximately 154 kb in length. This allele, which encodes ryanodine receptor 1 protein, plays a role in skeletal muscle contraction and neuronal signaling. Mutation of the gene is associated with central core disease, King-Denborough syndrome, minicore myopathy with external ophthalmoplegia, congenital neuromuscular disease with uniform type 1 fiber and susceptibility to malignant hyperthermia type 1.

**Synonyms:** - CCO - Central Core Disease of Muscle Gene - MHS - MHS1 - PPP1R137 - Protein Phosphatase 1, Regulatory Subunit 137 Gene - RYDR - RYR - RYR-1 - Ryanodine Receptor 1 (Skeletal) Gene - SKRR