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- Table of Contents
Facts about Ryanodine receptor 1.
Can also mediate the release of Ca(2+) from intracellular stores in neurons, and might thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle.
Human | |
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Gene Name: | RYR1 |
Uniprot: | P21817 |
Entrez: | 6261 |
Belongs to: |
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ryanodine receptor (TC 1.A.3.1) family |
CCO; central core disease of muscle; MHS; MHS1; ryanodine receptor 1 (skeletal); ryanodine receptor 1; ryanodine receptor type1; RYDR; RYR; RyR1; RYR-1; sarcoplasmic reticulum calcium release channel; Skeletal muscle calcium release channel; skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; SKRR; type 1-like ryanodine receptor
Mass (kDA):
565.176 kDA
Human | |
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Location: | 19q13.2 |
Sequence: | 19; NC_000019.10 (38433691..38587564) |
Skeletal muscle and brain (cerebellum and hippocampus).
Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum. The number of predicted transmembrane domains varies between orthologs, but the 3D-structures show the presence of six transmembrane regions. Both N-terminus and C-terminus are cytoplasmic.
PMID: 2298749 by Zorzato F., et al. Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.
PMID: 1354642 by Gillard E.F., et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.