RYR1 wt Allele

Preferred Label : RYR1 wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL552114;

GenBank Accession Number : J05200;

Details

Origin ID

C150312;

UMLS CUI

C4723867;

Automatic exact mappings (from CISMeF team)
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- Malignant hyperthermia, susceptibility to, 1 [OMIM Phenotype]
- Ryanodine receptor 1 [OMIM gene]
- ryanodine receptor 1 [ORDO Gene]
- ryanodine receptor calcium release channel [MeSH Descriptor]
OMIM relation
- Ryanodine receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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