Full name: ryanodine receptor 1, skeletal muscle

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: RYR-1; Ryr; skrr

Summary: Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated calcium channel activity. Involved in animal organ development; cellular response to caffeine; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study central core disease and malignant hyperthermia. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in mammary gland adult (RPKM 14.4), limb E14.5 (RPKM 5.1) and 8 other tissues

Gene size: 121835bp

Exon count: 108