Abstract
Genetic Variants of Store-Operated Channels and Human Diseases
Highlights
How is calcium ion detected within the calcium store? Second, what is the gene of store-operated calcium channel? By using siRNA screening, STIM1, an intracellular calcium sensor, was found in 2005 [3,4]
Animal models revealed the significant roles of STIM1 [9], ORAI1/CRACM1 in mast cell degranulation [10] and cancer cell development [11,12]
The first study of a genetic defection ORAI1 in humans was reported by Feske et al [5], when a mutation in exon 1 of the ORAI1 gene was detected in severe combined immune deficiency (SCID) patients
Summary
The functional role of Ca2+ influx in non-excitable cells was elusive for many years. Agonist-mediated empty of intracellular Ca2+ stores triggers the activation of calcium channels. In 1992, a series of patch clamp experiments by Hoth and Penner [2] identified a Ca2+-selective current that was evoked by intracellular stores. This calcium channel was named “Ca2+ release-activated Ca2+ (CRAC) channels”.
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