Symbol: Name: ID: |
RYR1 ryanodine receptor 1 (skeletal) GFS:426 |
Gene name: | RYR1 |
Chromosome: | 19q13.1 |
Previous Symbols: | MHS, MHS1, CCO |
Previous Names: | central core disease of muscle |
Aliases: | RYR |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:99659 | Rat Genome Database ID: | |
HGNC ID: | HGNC:10483 | RefSeq IDs: | NM_000540 |
Entrez Gene ID: | 6261 | Ensembl Gene ID: | ENSG00000196218 |
VEGA IDs: | UniProt ID: | P21817 | |
UCSC ID: | uc002oit.2 | OMIM ID: | 180901 |
Pubmed: | PMID1862346 PMID 16621918 | ||
CCDS IDs: | CCDSCCDS33011.1 CCDS CCDS42563.1 |
Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is a protein primarily found in skeletal muscle. In humans, it is encoded by the RYR1 gene.RYR1 encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq].
Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules
Products for RYR1 gene
Catalog | Product Name | Application | Company |
GFS:E00426 | ryanodine receptor 1 (skeletal); ELISA kit | ELISA | n/a |
GFS:A00426 | ryanodine receptor 1 (skeletal); Anti | ANTIBODIES | n/a |
GFS:P00426 | ryanodine receptor 1 (skeletal); Protien | Protien | n/a |