Ryanodine Receptor 1, Skeletal, ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of RYR1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS057182 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Ryanodine Receptor 1, Skeletal (RYR1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing RYR1. The ELISA analytical biochemical technique of the MBS057182 kit is based on RYR1 antibody-RYR1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect RYR1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, RYR1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

565,176 Da

ryanodine receptor 1 (skeletal)

ryanodine receptor 1; central core disease of muscle; type 1-like ryanodine receptor; skeletal muscle ryanodine receptor; skeletal muscle calcium release channel; protein phosphatase 1, regulatory subunit 137; sarcoplasmic reticulum calcium release channel

Ryanodine receptor 1

RYDR; RYR-1; RyR1  [Similar Products]

RYR1_HUMAN

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

Chromosomal Location of Human Ortholog: 19q13.1

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

Molecular Function: calmodulin binding; voltage-gated calcium channel activity; 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; release of sequestered calcium ion into cytosol; calcium ion transport; 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

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