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CEP41 - centrosomal protein 41
- Synonym(s) : DKFZp762H1311, FLJ22445, JBTS15
- Previous symbols and names : 'testis specific, 14', TSGA14, Testis specific, 14, centrosomal protein 41kDa
- Type : gene with protein product
- Chromosomal location : 7q32.2
- OMIM: 610523
- HGNC: 12370
- UniProtKB: Q9BYV8
- Genatlas: CEP41
- GenCC: CEP41
- Ensembl: ENSG00000106477
- IUPHAR-DB: -
- Reactome: Q9BYV8
- LOVD: CEP41
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Joubert syndrome
ORPHA:475 
- Disease-causing germline mutation(s) (loss of function) in Joubert syndrome with ocular defect
ORPHA:220493
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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