Reagents, Molecular Assay, Gene Anomaly, Mutation, CNGB3
Definition : Molecular assay reagents intended to identify mutations in the cyclic nucleotide gated channel beta 3 (CNGB3) gene, located at chromosome 8q21-q22, which encodes for a protein that produces a beta subunit essential to the generation of light-evoked electrical potential response in red-, green-, and blue-sensitive cones. Mutations at this locus have been identified in patients with achromatopsia 3 (Pingelapese achromatopsia), which is distinct from total color blindness due to consistent concurrent myopia.
Entry Terms : "CNGB3 Gene Mutation Detection Reagents"
UMDC code : 24352