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PDE6D - phosphodiesterase 6D
- Synonym(s) : JBTS22, retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
- Previous symbols and names : phosphodiesterase 6D, cGMP-specific, rod, delta
- Type : gene with protein product
- Chromosomal location : 2q37.1
- OMIM: 602676
- HGNC: 8788
- UniProtKB: O43924
- Genatlas: PDE6D
- GenCC: PDE6D
- Ensembl: ENSG00000156973
- IUPHAR-DB: 1315
- Reactome: O43924
- LOVD: PDE6D
Diseases list
- Disease-causing germline mutation(s) in Joubert syndrome
ORPHA:475 
- Disease-causing germline mutation(s) (loss of function) in Orofaciodigital syndrome type 6
ORPHA:2754
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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