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FLASH GENE
Symbol FGF9 contributors: mct/npt/pgu - updated : 28-01-2013
HGNC name fibroblast growth factor 9 (glia-activating factor)
HGNC id 3687
ASSOCIATED DISORDERS
corresponding disease(s) SYNS3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in colorectal and endometrial carcinoma
constitutional   deletion    
of either FGF9 or FGFR2 in an XY gonad resulted in up-regulation of WNT4 and male-to-female sex reversal
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • spontaneous dominant mouse mutant, Elbow knee synostosis (Eks), shows elbow and knee joint synosostis, and premature fusion of cranial sutures
  • loss of Fgf9 in XX Wnt4(-/-) gonads does not rescue their partial female-to-male sex-reversal
  • embryos lacking Fgf9 show mesenchymal hypoplasia, decreased epithelial branching and, by the end of gestation, hypoplastic lungs that cannot support life