Search for a gene
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
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.