| Protein Name | ryanodine receptor 1, skeletal muscle |
|---|---|
| Organism | Mus musculus |
| Gene ID | 20190 |
| Gene Symbol | Ryr1 |
| UniProt | E9PZQ0 (RYR1_MOUSE), A0A1L1SQG7 (A0A1L1SQG7_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
163
Total Number of Articles : 245 |
Description |
ryanodine receptor 1, skeletal muscle |
| Gene 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] |
| synonyms |
|
| Properties | |