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CRB1 - crumbs cell polarity complex component 1
- Synonym(s) : LCA8
- Previous symbols and names : RP12, crumbs (Drosophila) homolog 1, crumbs family member 1, photoreceptor morphogenesis associated, crumbs homolog 1 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 1q31.3
- OMIM: 604210
- HGNC: 2343
- UniProtKB: P82279
- Genatlas: CRB1
- Ensembl: ENSG00000134376
- IUPHAR-DB: -
- Reactome: P82279
- LOVD: CRB1
Diseases list
- Disease-causing germline mutation(s) in Leber congenital amaurosis
ORPHA:65 
- Disease-causing germline mutation(s) in Nanophthalmos
ORPHA:35612 - Disease-causing germline mutation(s) in Pigmented paravenous retinochoroidal atrophy
ORPHA:251295 - Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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