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fbn1
FBN1
FBN1 encodes fibrillin-1, the principal component of extracellular microfibrils that sequester TGF-β; FBN1 mutations → inadequate TGF-β sequestration → excess TGF-β signaling → aortic root dilation and connective tissue laxity; haploinsufficient FBN1 LOF causes Marfan syndrome.
Entry Metadata
| Field | Value |
|---|---|
| ID | fbn1 |
| Name | FBN1 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352(6333):337-339. · PubMed 1852208
- Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33(3):407-411. · PubMed 12598898