Gene
fbn1
- ID
- ZDB-GENE-091204-466
- Name
- fibrillin 1
- Symbol
- fbn1 Nomenclature History
- Previous Names
-
- si:ch73-34a12.4
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Quint et al., 2022
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acromicric dysplasia | Alliance | Acromicric dysplasia | 102370 |
| autosomal dominant isolated ectopia lentis 1 | Alliance | Ectopia lentis, familial | 129600 |
| geleophysic dysplasia 2 | Alliance | Geleophysic dysplasia 2 | 614185 |
| Marfan syndrome | Alliance | Marfan syndrome | 154700 |
| stiff skin syndrome | Alliance | Stiff skin syndrome | 184900 |
| Weill-Marchesani syndrome | Alliance | Weill-Marchesani syndrome 2, dominant | 608328 |
| Marfan lipodystrophy syndrome | 616914 | ||
| MASS syndrome | 604308 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| refractive error | fbn1re12/re12 | standard conditions | Quint et al., 2022 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance