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EFEMP1 - EGF containing fibulin extracellular matrix protein 1
- Synonym(s) : FBLN3, fibulin 3, MTLV, S1-5
- Previous symbols and names : DHRD, EGF containing fibulin like extracellular matrix protein 1, EGF-containing fibulin-like extracellular matrix protein 1, FBNL, fibrillin-like
- Type : gene with protein product
- Chromosomal location : 2p16.1
- OMIM: 601548
- HGNC: 3218
- UniProtKB: Q12805
- Genatlas: EFEMP1
- GenCC: EFEMP1
- Ensembl: ENSG00000115380
- IUPHAR-DB: -
- Reactome: Q12805
- LOVD: EFEMP1
Diseases list
- Disease-causing germline mutation(s) in Familial drusen
ORPHA:75376 
- Disease-causing germline mutation(s) in Juvenile glaucoma
ORPHA:98977
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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