The ryr1 gene encodes a ryanodine receptor calcium release channel, which is an intracellular calcium channel protein localized to the sarcoplasmic reticulum membrane. In skeletal muscle, the ryr1 prot...[+]

The ryr1 gene encodes a ryanodine receptor calcium release channel, which is an intracellular calcium channel protein localized to the sarcoplasmic reticulum membrane. In skeletal muscle, the ryr1 protein functions as the major calcium release channel for excitation-contraction coupling, facilitating the release of stored calcium from the sarcoplasmic reticulum into the cytoplasm to initiate muscle contraction. It also plays a role in calcium-induced calcium release in the heart. The expression of ryr1 mRNA is detected in skeletal muscle and the heart during development. [-]

             congenital myopathy 1A
             malignant hyperthermia
             King Denborough syndrome
             congenital myopathy 1B

          CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYP
          MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
          CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD