Details for Gene ORAI1

GENE NAME ORAI1
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000276045
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['calcium channel activity', 'store-operated calcium channel activity', 'calmodulin binding', 'protein binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04020; hsa04024; hsa04611; hsa04924; hsa04925; hsa04927; hsa04934; hsa05340; R-HSA-109582; R-HSA-1280218; R-HSA-139853; R-HSA-168256; R-HSA-397014; R-HSA-418346; R-HSA-418360; R-HSA-5576891; R-HSA-5578775; R-HSA-983695; R-HSA-983705
1 combination linked to ORAI1 OLI1465
1 variant linked to ORAI1 ORAI1:c.126_127insA, p.Pro43ThrfsTer47
1 disease linked to ORAI1 Rare pervasive developmental disorder

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