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RYR1

MIM.180901

Tuesday 5 August 2008

RYR1 gene codes for ryanodine receptor.

The RYR1 gene on chromosome 19q, encodes for ryanodine receptor type 1.

This receptor is a skeletal muscle calcium channel located in the sarcoplasmic reticulum, responsible for the release of calcium in the sarcoplasmic reticulum, allowing muscle contraction.

The RYR1 gene encodes the skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule.

Pathology

- germline mutations of RYR1 in :

  • central core disease (MIM.117000)
  • minicore myopathy with external ophthalmoplegia (MIM.255320)
  • neuromuscular disease, congenital, with uniform type 1 fiber (MIM.117000)
  • malignant hyperthermia susceptibility type 1 (MIM.145600)
    • Mutation of this channel then leads to an abnormal sustained increase in myoplasmic calcium concentration in skeletal muscle, with the resulting potential for developing malignant hyperthermia.

See also

- channelopathies

Open references

- Multi-minicore Disease. Jungbluth H. Orphanet J Rare Dis. 2007 Jul 13;2:31. Review. PMID: 17631035 (Free)

- Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D’Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Brain. 2007 Aug;130(Pt 8):2024-36. PMID: 17483490 (Free)