Details for Gene SCO2

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

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