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FLASH GENE

Symbol

FBN1

contributors: mct/npt/pgu - updated : 09-01-2018

HGNC name	fibrillin 1 (Marfan syndrome)
HGNC id	3603

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ECTL , MFS1 , SGS , KPSI , TAA , WMSAD , SSKS , ACMICD , GLSD2 , MFLS

related resource

Marfan Database - Fibrillin-1 gene mutations

Susceptibility

to sporadic thoracic aortic aneurysms and dissections (STAAD)

Variant & Polymorphism SNP , other	common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular valvulopathy   decrease the proportion of FBN1 expressed as 57A-FBN1 represents a potential therapeutic modality in Marfan syndrome

ANIMAL & CELL MODELS

decreased expression of Fbn1 during morphogenesis of the fetal diaphragm may disrupt mesenchymal cell proliferation, causing malformed muscle connective tissue (MCT) and thus resulting in diaphragmatic defects in the nitrofen-induced congenital diaphragmatic hernia (CDH) model