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CNGB3 - cyclic nucleotide gated channel beta 3
- Synonym(s) :
- Previous symbols and names : ACHM1, ACHM3, RMCH, achromatopsia (rod monochromacy) 1, achromatopsia (rod monochromacy) 3
- Type : gene with protein product
- Chromosomal location : 8q21.3
- OMIM: 605080
- HGNC: 2153
- UniProtKB: Q9NQW8
- Genatlas: CNGB3
- Ensembl: ENSG00000170289
- IUPHAR-DB: 399
- Reactome: -
- LOVD: CNGB3
Diseases list
- Disease-causing germline mutation(s) in Achromatopsia
ORPHA:49382 
- Disease-causing germline mutation(s) in Progressive cone dystrophy
ORPHA:1871 - Candidate gene tested in Stargardt disease
ORPHA:827
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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