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

Chromosomal Location of Human Ortholog: 19q13.1

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

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

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

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