Sequence Information
Ryanodine Receptor 1, Skeletal (RYR1) Recombinant Protein | RYR1 recombinant protein
Recombinant Ryanodine Receptor 1, Skeletal (RYR1)
Sequence Information
Sequence Information
SDS-Page
SDS-Page
NCBI and Uniprot Product Information
Accurate Molecular Weight: 63kDa
NCBI Description
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]
Uniprot Description
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: Channel, calcium; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 19q13.2
Cellular Component: cell cortex; cytoplasm; extracellular exosome; I band; integral component of plasma membrane; junctional membrane complex; junctional sarcoplasmic reticulum membrane; plasma membrane; ryanodine receptor complex; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; T-tubule; terminal cisterna
Molecular Function: ATP binding; calcium channel activity; calcium ion binding; calcium-induced calcium release activity; 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; cellular response to caffeine; cellular response to calcium ion; muscle contraction; outflow tract morphogenesis; protein homotetramerization; regulation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; response to caffeine; response to hypoxia; skeletal muscle fiber development; skin development
Disease: Central Core Disease Of Muscle; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia; Myopathy, Congenital, With Fiber-type Disproportion
Research Articles on RYR1
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Product Notes
The RYR1 ryr1 (Catalog #AAA2097555) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The Recombinant Ryanodine Receptor 1, Skeletal (RYR1) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's Ryanodine Receptor 1, Skeletal (RYR1) can be used in a range of immunoassay formats including, but not limited to, Positive Control, Immunogen, SDS-PAGE, Western Blot (WB). Researchers should empirically determine the suitability of the RYR1 ryr1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Ryanodine Receptor 1, Skeletal (RYR1), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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