RYR1, ryanodine receptor 1

RYR1, ryanodine receptor 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]

• Gene Synonyms (ryanodine receptor 1, central core disease of muscle, protein phosphatase 1, regulatory subunit 137, ryanodine receptor 1 (skeletal), sarcoplasmic reticulum calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, type 1-like ryanodine receptor, CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR,)
• NCBI Gene ID: 6261
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P21817
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

ryanodine receptor 1 interacts with:

• A-kinase anchoring protein 6
  anterior gradient 2, protein disulphide isomerase family member
  homer scaffold protein 1
  homer scaffold protein 2
  homer scaffold protein 3
  metadherin
  methyltransferase like 3
  ring finger protein 123
  ryanodine receptor 1
  ryanodine receptor 2
  S100 calcium binding protein A1
  triadin

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.