Ryanodine Receptor 1 (RYR1) Antibody – Rabbit Polyclonal

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

RYR1: Calcium channel that controls communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Can 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 development of muscle fibers, skeletal muscle, heart morphogenesis, and skin development and ossification during embryogenesis. Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) and central core disease of muscle (CCD). CCD is an autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO), congenital myopathy with fiber-type disproportion (CFTD). Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Transporter; Membrane protein, integral; Transporter, ion channel; Channel, calcium

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: cell cortex; cytoplasm; cytosol; I band; integral to plasma membrane; junctional membrane complex; plasma membrane; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; T-tubule

Molecular Function: calcium channel activity; calcium ion binding; calcium-release channel activity; calmodulin binding; protease binding; protein binding; ryanodine-sensitive calcium-release channel activity; voltage-gated calcium channel activity

Biological Process: calcium ion transport; cytosolic calcium ion homeostasis; muscle contraction; release of sequestered calcium ion by sarcoplasmic reticulum into cytosol; release of sequestered calcium ion into cytosol; response to caffeine; response to hypoxia; skeletal muscle fiber development; skin development; transmembrane transport

Disease: Central Core Disease Of Muscle; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia; Myopathy, Congenital, With Fiber-type Disproportion