Is Orai1 a homomultimer?
Recombinant ORAI1 is a homomultimer. Size-exclusion chromatogram of human ORAI1 (65–301) after expression in Pichia pastoris and enrichment by immobilized metal affinity chromatography. The solid line monitors protein eluting from the column.
What is the pathophysiology of Orai1 deficiency?
The homozygous frameshift and compound heterozygous mutations caused loss of ORAI1 protein expression. Nearly all patients have severe or recurrent infections caused by a variety of bacteria, fungi, and viruses. Patients most commonly develop pneumonia, often caused by the unusual pathogen Chlamydia pneumoniae.
Which Orai1 peak is closest to 158 kDa?
The ORAI1 protein-lipid-detergent peak elutes slightly ahead of the 158 kDa marker. Inset, a Coomassie Brilliant Blue-stained SDS-polyacrylamide gel of the peak ORAI1 fractions shows that the complex contains only ORAI1 (65–301).
What is the prognosis of ororai1 deficiency?
ORAI1 deficiency causes severe life-threatening infections. The disease primarily affects lymphocyte activation, but also has non-immune developmental manifestations involving the teeth, skin, and muscles.