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FBN2 - fibrillin 2
- Synonym(s) : DA9, fibrillin 5
- Previous symbols and names : CCA, congenital contractural arachnodactyly
- Type : gene with protein product
- Chromosomal location : 5q23.3
- OMIM: 612570
- HGNC: 3604
- UniProtKB: P35556
- Genatlas: FBN2
- GenCC: FBN2
- Ensembl: ENSG00000138829
- IUPHAR-DB: -
- Reactome: P35556
- LOVD: FBN2
Diseases list
- Disease-causing germline mutation(s) in Congenital contractural arachnodactyly
ORPHA:115 - Major susceptibility factor in NON RARE IN EUROPE: Age-related macular degeneration
ORPHA:279

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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