Rabbit anti-Human RYR1 Polyclonal Antibody, FITC conjugated

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.