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CRYBA1 - crystallin beta A1
- Synonym(s) : eye lens structural protein
- Previous symbols and names : CRYB1, crystallin, beta A1
- Type : gene with protein product
- Chromosomal location : 17q11.2
- OMIM: 123610
- HGNC: 2394
- UniProtKB: P05813
- Genatlas: CRYBA1
- GenCC: CRYBA1
- Ensembl: ENSG00000108255
- IUPHAR-DB: -
- Reactome: P05813
- LOVD: CRYBA1
Diseases list
- Disease-causing germline mutation(s) in Early-onset lamellar cataract
ORPHA:441452 
- Disease-causing germline mutation(s) in Early-onset nuclear cataract
ORPHA:98991 - Disease-causing germline mutation(s) in Early-onset posterior polar cataract
ORPHA:98993 - Disease-causing germline mutation(s) in Early-onset sutural cataract
ORPHA:98985
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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