Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ectodermal_dysplasia,_acromelic
gptkb:FBN gptkb:SMLS |
| gptkbp:approvedBy |
gptkb:fibrillin_1
|
| gptkbp:approvedSymbol |
gptkb:FBN1
|
| gptkbp:associatedWith |
gptkb:Ectopia_lentis
gptkb:Familial_thoracic_aortic_aneurysm gptkb:Weill-Marchesani_syndrome gptkb:Marfan_syndrome |
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
| gptkbp:function |
regulation of TGF-beta signaling
structural component of microfibrils |
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:5253
|
| gptkbp:locatedOnChromosome |
15
15q21.1 |
| gptkbp:location |
extracellular matrix
|
| gptkbp:locusType |
gene with protein product
|
| gptkbp:OMIM |
134797
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:fibrillin_family
|
| gptkbp:RefSeq |
NM_000138
|
| gptkbp:symbol |
approved
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:HSP90AA1
|
| gptkbp:bfsLayer |
8
|