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FLASH GENE

Symbol

FBLN1

contributors: mct - updated : 20-02-2019

HGNC name	fibulin 1
HGNC id	3600

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PSDY3 , MRCLUG

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   translocation     translocation t(12;22)(p11.2;q13.3) in a complex type of synpolydactyly constitutional         haploinsufficence of variant D in synpolydactyly tumoral     --over   of FBLN1C and FBLN1D in ovarian cancer constitutional       loss of function of variant D in autosomal-dominant giant platelet syndromes(FTNS) tumoral     --low   promoter hypermethylation of FBLN1 is associated with tumor progression in cutaneous melanoma tumoral     --low   in renal cell carcinoma through promoter hypermethylation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	serum FBLN1 and STK31 are biomarkers of colorectal cancer, having ability to noninvasively differentiate colorectal cancer from benign polyps
	changes in VIM and FBLN1 methylation levels in cell-free DNA (cfDNA) are associated with Hepatocellular carcinoma (HCC) and could represent useful plasma-based biomarkers
	plasma levels of FBLN1 could serve as a potential indicator to monitor kidney malfunction or kidney damage
Therapy target

ANIMAL & CELL MODELS

	Fbln1c-/- mice also had reduced airway remodeling in experimental chronic asthma and pulmonary fibrosis
	Fbln1c-deficient (-/-) mice had reduced pulmonary remodeling/fibrosis and improved lung function after bleomycin challenge