Details for Gene PPFIA4

GENE NAME PPFIA4
CHROMOSOME 1
ENSEMBL ID ENSG00000143847
ENTREZ ID 8497
UNIPROT ACCESSION NUMBER O75335
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-212676; R-HSA-112315; R-HSA-112316; R-HSA-181429; R-HSA-210500; R-HSA-6794362; R-HSA-388844; R-HSA-264642; R-HSA-112310; R-HSA-181430
1 combination linked to PPFIA4 OLI1030
1 variant linked to PPFIA4 PPFIA4:c.3313C>G, p.Gln1105Glu
1 disease linked to PPFIA4 Isolated focal cortical dysplasia

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