| GENE NAME | FBN1 |
| CHROMOSOME | 15 |
| ENSEMBL ID | ENSG00000166147 |
| ENTREZ ID | 2200 |
| UNIPROT ACCESSION NUMBER | P35555 |
| GO MOLECULAR FUNCTION | protein binding; identical protein binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1474244; R-HSA-216083; R-HSA-1474228; R-HSA-8957275; hsa04350; R-HSA-1566948; R-HSA-2129379; R-HSA-381426; R-HSA-597592; R-HSA-392499 |
| 2 combinations linked to FBN1 | OLI297; OLI499 |
| 2 variants linked to FBN1 | FBN1:c.3455C>T, p.Ala1152Val; FBN1:c.4969dup, p.Ile1657AsnfsTer30 |
| 3 diseases linked to FBN1 | Adolescent idiopathic scoliosis; Congenital diaphragmatic hernia; Marfan syndrome |