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COL8A2 - collagen type VIII alpha 2 chain
- Synonym(s) : FECD1, PPCD, PPCD2
- Previous symbols and names : FECD, collagen type VIII alpha 2, collagen, type VIII, alpha 2
- Type : gene with protein product
- Chromosomal location : 1p34.3
- OMIM: 120252
- HGNC: 2216
- UniProtKB: P25067
- Genatlas: COL8A2
- GenCC: COL8A2
- Ensembl: ENSG00000171812
- IUPHAR-DB: -
- Reactome: P25067
- LOVD: COL8A2
Diseases list
- Disease-causing germline mutation(s) in Fuchs endothelial corneal dystrophy
ORPHA:98974 
- Disease-causing germline mutation(s) in Posterior polymorphous corneal dystrophy
ORPHA:98973
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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