Search for a gene
BFSP2 - beaded filament structural protein 2
- Synonym(s) : CP47, CP49, LIFL-L, phakinin
- Previous symbols and names : beaded filament structural protein 2, phakinin
- Type : gene with protein product
- Chromosomal location : 3q22.1
- OMIM: 603212
- HGNC: 1041
- UniProtKB: Q13515
- Genatlas: BFSP2
- GenCC: BFSP2
- Ensembl: ENSG00000170819
- IUPHAR-DB: -
- Reactome: Q13515
- LOVD: BFSP2
Diseases list
- Disease-causing germline mutation(s) in Early-onset lamellar cataract
ORPHA:441452 
- Disease-causing germline mutation(s) in Early-onset sutural cataract
ORPHA:98985 - Disease-causing germline mutation(s) in Pulverulent cataract
ORPHA:98984
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.