DISEASES

Disease-gene associations mined from literature

Literature associating ORAI1 and Stormorken syndrome

ORAI1 [ENSP00000480616]

Calcium release-activated calcium channel protein 1; Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1. CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT; Belongs to the Orai family.

Synonyms:  ORAI1,  ORAI1p,  hORAI1,  A0A024RBT3,  F5GWZ3 ...

Linkouts:  STRING  Pharos  UniProt