Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:associatedWith |
gptkb:Marfan_syndrome
|
| gptkbp:component |
microfibrils
|
| gptkbp:discoveredBy |
John A. McKusick
|
| gptkbp:domain |
EGF-like domains
TB (transforming growth factor beta-binding) domains |
| gptkbp:encodedBy |
gptkb:FBN1_gene
FBN2 gene FBN3 gene |
| gptkbp:firstDescribed |
1986
|
| gptkbp:foundIn |
extracellular matrix
|
| gptkbp:function |
structural support
|
| https://www.w3.org/2000/01/rdf-schema#label |
fibrillins
|
| gptkbp:interactsWith |
gptkb:elastin
latent TGF-beta binding proteins |
| gptkbp:molecularWeight |
~350 kDa
|
| gptkbp:mutationAssociatedWith |
connective tissue disorders
|
| gptkbp:presentIn |
humans
mammals vertebrates |
| gptkbp:role |
elastic fiber formation
|
| gptkbp:bfsParent |
gptkb:HGNC:4440
gptkb:HGNC:5344 |
| gptkbp:bfsLayer |
8
|