RYR1 Antibodies

Target Information

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. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. Skeletal muscle and brain (cerebellum and hippocampus). 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.

Alternate Names

CCO; central core disease of muscle; MHS; MHS1; PPP1R137; protein phosphatase 1, regulatory subunit 137; Ryanodine receptor 1; ryanodine receptor 1 (skeletal); ryanodine receptor type1; RYDR; RYR; RYR-1; RYR1; sarcoplasmic reticulum calcium release channel; Skeletal muscle calcium release channel; skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; SKRR; Type 1 ryanodine receptor; type 1-like ryanodine receptor