Details for Gene F5

GENE NAME F5
CHROMOSOME 1
ENSEMBL ID ENSG00000198734
ENTREZ ID 2153
UNIPROT ACCESSION NUMBER P12259
GO MOLECULAR FUNCTION metal ion binding; copper ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-140877; R-HSA-140875; R-HSA-392499; R-HSA-381426; R-HSA-199977; R-HSA-597592; R-HSA-109582; R-HSA-199991; R-HSA-204005; R-HSA-114608; R-HSA-5653656; R-HSA-446203; R-HSA-5694530; hsa04610; R-HSA-76002; R-HSA-8957275; R-HSA-76005; R-HSA-948021
1 combination linked to F5 OLI455
1 variant linked to F5 F5:c.1601A>T, p.Gln534Leu
1 disease linked to F5 Familial exudative vitreoretinopathy

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