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 |