RYR1

Also known as CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR

protein-coding gene in the species Homo sapiens

Gene data

RYR1

Name: ryanodine receptor 1
Type: protein-coding
Position: 38,433,691–38,595,273 (+)
Aliases: CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR
Ensembl: ENSG00000196218
RefSeq RNA: NM_000540.3, NM_001042723.2, XM_006723317.3, XM_006723319.3, XM_011527205.3
RefSeq protein: NP_000531.2, NP_001036188.1, XP_006723380.1, XP_006723382.1, XP_011525507.1

This gene 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, Jul 2008].