RYR1

RYR1 is a gene that provides instructions for making a protein called the ryanodine receptor 1. This protein is found in the skeletal muscle, which is the type of muscle used for movement. The ryanodine receptor 1 acts as a channel that controls the flow of positively charged atoms (ions) into cells. Specifically, it allows calcium ions to be released from storage compartments within cells, which is a critical step in muscle contraction.

Function

The RYR1 gene provides instructions for making a protein that is critical for normal muscle function. This protein, called the ryanodine receptor 1, is found in the skeletal muscle, which is the type of muscle used for movement. The ryanodine receptor 1 acts as a channel that controls the flow of positively charged atoms (ions) into cells. Specifically, it allows calcium ions to be released from storage compartments within cells, which is a critical step in muscle contraction.

Clinical significance

Mutations in the RYR1 gene are associated with several inherited muscle disorders, including malignant hyperthermia, central core disease, multiminicore disease, and congenital fiber-type disproportion. These conditions are characterized by muscle weakness and other muscle-related problems. Most of these conditions are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

See also

• Ryanodine receptor
• Skeletal muscle
• Calcium ion
• Muscle contraction
• Malignant hyperthermia
• Central core disease
• Multiminicore disease
• Congenital fiber-type disproportion

External links

• RYR1 at Genetics Home Reference
• RYR1 at National Center for Biotechnology Information

RYR1 Resources
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