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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SYNS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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