Details for Gene FGF8

GENE NAME FGF8
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000107831
UNIPROT ACCESSION NUMBER P55075
GO MOLECULAR FUNCTION ['growth factor activity', 'fibroblast growth factor receptor binding', 'type 2 fibroblast growth factor receptor binding', 'type 1 fibroblast growth factor receptor binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa04014; hsa04015; hsa04020; hsa04151; hsa04810; hsa05200; hsa05218; hsa05224; hsa05226; hsa04010; hsa04014; hsa04015; hsa04020; hsa04151; hsa04810; hsa05200; hsa05218; hsa05224; hsa05226
10 combinations linked to FGF8 OLI397; OLI1424; OLI1303; OLI1286; OLI409; OLI197; OLI1337; OLI1599; OLI779; OLI410
9 variants linked to FGF8 FGF8:c.298A>G, p.Lys100Glu; FGF8:c.118T>C, p.Phe40Leu; FGF8:c.68A>T, p.Gln23Leu; FGF8:c.451G>A, p.Gly151Ser; FGF8:c.98G>T, p.Gly33Val; FGF8:c.386G>A, p.Arg129Gln; FGF8:c.-72A>G, ; FGF8:c.159_164del, p.Thr54_Val55del; FGF8:c.77C>T, p.Pro26Leu
3 diseases linked to FGF8 Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome
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