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FLASH GENE

Symbol

FOXC1

contributors: shn/npt/pgu - updated : 20-03-2016

HGNC name	forkhead box C1
HGNC id	3800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AXRI , DEL6PD , DWM2 , AN , IRID1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in endometrial and ovarian cancer constitutional   deletion     or duplication in eye anterior segment abnormalities, glaucoma constitutional somatic mutation       four potentially pathogenic FOXC1 mutations causing amino acid substitutions (P79R, Y115S, G149D, and M161V) responsible for a significant profortion of Axenfeld-Rieger malformation in Germany constitutional germinal mutation       associated white matter hyperintensities, dilated perivascular spaces, and lacunar infarction, by patients with cerebral small-vessel disease (CSVD) tumoral     --over   is associated with poor prognosis in pancreatic ductal adenocarcinoma constitutional       loss of function altered FOXC1 function associated to cerebral small-vessel disease (CSVD)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas may provide an opportunity for developing a novel therapeutic target as well as a prognostic marker in PDA (pancreatic ductal adenocarcinoma)

ANIMAL & CELL MODELS

	Foxc1 (+/-)mice have anterior segment abnormalities: small or absent Schlemm's canal, aberrantly developed trabecular meshwork, iris hypoplasia, severely eccentric pupils and displaced Schwalbe's line
	embryos lacking Foxc1 die pre- or perinatally including defects in the axial skeleton and cardiovascular system
	compound Foxc1; Foxc2 homozygotes die earlier and with much more severe defects than single homozygotes alone. They have profound abnormalities in the first and second branchial arches, and the early remodeling of blood vessels
	mice carrying the null-mutated Foxc1 gene frequently develop an anomalous double collecting system
	hypomorphic mouse allele for Foxc1 (Foxc1(hith)) survives into adulthood which embryonic and postnatal histological analyses indicate that diminished Foxc1 protein expression in all three layers of meningeal cells leading to cortical and skull defects, detachment of radial glial endfeet, marginal zone heterotopias and cortical dyslamination
	Foxc1-null mice have embryonic abnormalities of the rhombic lip due to loss of mesenchyme-secreted signaling molecules with subsequent loss of Atoh1 expression in vermis
	expression of the Msx2 homeobox gene, an essential regulator of calvarial bone development is absent in the skull mesenchymal progenitors of Foxc1 mutant mice