Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ectopia_lentis
gptkb:FBN SHT |
| gptkbp:associatedWith |
gptkb:Marfan_syndrome
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
| gptkbp:fullName |
gptkb:fibrillin_1
|
| gptkbp:function |
structural component of microfibrils
|
| gptkbp:gene |
gptkb:FBN1
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:4172
|
| gptkbp:length |
2871 amino acids
|
| gptkbp:locatedOnChromosome |
15
|
| gptkbp:location |
extracellular matrix
|
| gptkbp:locusType |
15q21.1
|
| gptkbp:molecularWeight |
320 kDa
|
| gptkbp:OMIM |
134797
|
| gptkbp:proteinFamily |
gptkb:fibrillin_family
|
| gptkbp:RefSeq |
NM_000138
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:ENSG00000111341
gptkb:ENSG00000113721 |
| gptkbp:bfsLayer |
7
|