GENE NAME | SCO2 |
CHROMOSOME | 22 |
ENSEMBL ID | ENSG00000284194 |
ENTREZ ID | 9997 |
UNIPROT ACCESSION NUMBER | O43819 |
GO MOLECULAR FUNCTION | copper ion binding; protein-disulfide reductase activity; protein binding; copper chaperone activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1428517; R-HSA-212436; R-HSA-3700989; R-HSA-163200; R-HSA-1430728; R-HSA-73857; R-HSA-611105; hsa05230; R-HSA-5628897; R-HSA-74160 |
1 combination linked to SCO2 | OLI930 |
1 variant linked to SCO2 | SCO2:c.418G>A, p.Glu140Lys |
1 disease linked to SCO2 | Transposition of the great arteries |