|  Help  |  About  |  Contact Us

Search our database by keyword

- or -

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 2 out of 2 for Ryr1

Category restricted to ProteinDomain (x)

0.015s

Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: The function of skeletal muscle relies on the movement of Ca2+ out of and back into the storage compartment (SR). Ryanodine receptor 1 (RyR) functions as a Ca2+-release channels, releasing Ca2+ from the SR, resulting in muscle contraction [].Mutations in the RyR1 gene cause malignant hyperthermia 1 (MHS1), an autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia [, ].
Protein Domain
Type: Domain
Description: This SPRY domain (SPRY2) is the second of three structural repeats in all three isoforms of the ryanodine receptor (RyR), which are the major Ca2+ release channels in the membranes of sarcoplasmic reticulum (SR). There are three RyR genes in mammals; the skeletal RyR1, the cardiac RyR2 and the brain RyR3. The three SPRY domains are located in the N-terminal part of the cytoplasmic region of the RyRs, The SPRY2 domain has been shown to bind to the dihydropryidine receptor (DHPR) II-III loop and the ASI region of RyR1 [, ].