Pub. Date : 2022 May 18
PMID : 35636153
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Gain-of-function mutations on STIM1 and ORAI1 genes are responsible for an increased store-operated calcium entry, and underlie the characteristic symptoms of three overlapping ultra-rare genetic disorders (i.e tubular aggregate myopathy, Stormorken syndrome, York platelet syndrome) that can be grouped as tubular aggregate myopathies. | Calcium | ORAI calcium release-activated calcium modulator 1 | Homo sapiens |