Details for Gene SERPINA1

GENE NAME SERPINA1
CHROMOSOME 14
ENSEMBL ID ENSG00000197249
ENTREZ ID 5265
UNIPROT ACCESSION NUMBER P01009
GO MOLECULAR FUNCTION protein binding; serine-type endopeptidase inhibitor activity; identical protein binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-199977; R-HSA-597592; R-HSA-381426; R-HSA-168249; R-HSA-392499; R-HSA-114608; R-HSA-5653656; R-HSA-6798695; R-HSA-204005; R-HSA-109582; R-HSA-199991; R-HSA-76005; R-HSA-948021; R-HSA-76002; R-HSA-8957275; hsa04610; hsa04610; R-HSA-446203; R-HSA-5694530; R-HSA-168256
3 combinations linked to SERPINA1 OLI804; OLI803; OLI801
2 variants linked to SERPINA1 SERPINA1:c.863A>T, p.Glu288Val; SERPINA1:c.1096G>A, p.Glu366Lys
1 disease linked to SERPINA1 Cystic fibrosis

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