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| Cat.No | ACP04885 | Target Name | RYR1 |
|---|---|---|---|
| Form | Liquid or Lyophilized powder | Expression System | E.coli |
| Expression Range | 1-534aa | Mol Weight | 63.3kDa |
| Protein Length | Partial | Purity | Greater than 90% as determined by SDS-PAGE. |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P21817 |
|---|
Uniprot Id
P21817
Target Species
Human
Target Name
RYR1
Target Full Name
Ryanodine receptor 1
Target Function
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also 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 embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis.
Target Involvement
Malignant hyperthermia 1 (MHS1); Central core disease of muscle (CCD); Multiminicore disease with external ophthalmoplegia (MMDO)
Target Subcellular Location
Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum.
Target Protein Families
Ryanodine receptor (TC 1.A.3.1) family, RYR1 subfamily
Target Tissue Specificity
Skeletal muscle and brain (cerebellum and hippocampus).
Target Research Area
Transport
Target Synonyms
CCO; Central core disease of muscle; MHS; MHS1; PPP1R137; Protein phosphatase 1 regulatory subunit 137; Ryanodine receptor 1; RYDR; RYR; RYR-1; RyR1; RYR1_HUMAN; sarcoplasmic reticulum calcium release channel; Skeletal muscle calcium release channel; Skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; SKRR; Type 1 ryanodine receptor
Target Background
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.
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