Article
Diseases caused by mutations in ORAI1 and STIM1.
Annals of the New York Academy of Sciences - 1 Nov 2015
Lacruz Rodrigo S, Feske Stefan
Abstract excerpt
Ca(2+) release-activated Ca(2+) (CRAC) channels mediate a specific form of Ca(2+) influx called store-operated Ca(2+) entry (SOCE) that contributes to the function of many cell types. CRAC channels are composed of ORAI1 proteins located in the plasma membrane, which form its ion-conducting pore. ORAI1 channels are activated by stromal interaction molecule (STIM) 1 and STIM2 located in the endoplasmic reticulum....
Topics
- Autoimmune Diseases
- Calcium Channels
- Channelopathies
- Humans
- Membrane Proteins
- Muscle Hypotonia
- Mutation
- Neoplasm Proteins
- ORAI1 Protein
- Severe Combined Immunodeficiency
- Stromal Interaction Molecule 1