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RYR1

Chr 19q13.2

ryanodine receptor 1

Aliases:
RYR, PPP1R137
MANE:
ENST00000359596.8
OMIM: 180901 ↗NCBI: 6261 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Acute rhabdomyolysis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Arthrogryposis

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Congenital myopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Malignant hyperthermia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Rhabdomyolysis and metabolic muscle disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • congenital multicore myopathy with external ophthalmoplegia

    0.84

  • central core myopathy

    0.83

  • Central core disease

    0.81

  • King-Denborough syndrome

    0.80

  • malignant hyperthermia of anesthesia

    0.78

  • RYR1-related myopathy

    0.70

  • Malignant hyperthermia

    0.65

  • myopathy

    0.58

  • ryr1-related disorders

    0.58

  • Minicore myopathy

    0.58

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ryanodine receptor 1

Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667, PubMed:18268335, PubMed:18650434, PubMed:26115329). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity)

Diseases associated with RYR1

Curated MONDO disease pages that list RYR1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.