Reagents, Molecular Assay, Gene Anomaly, Mutation, CNGA3
Definition : Molecular assay reagents intended to identify mutations in the cyclic nucleotide gated channel alpha 3 (CNGA3) gene, located at chromosome 2q11, which encodes for a protein essential to visual and olfactory signal transduction; the gene is essential to the generation of light-evoked electrical potential responses in the red-, green-, and blue-sensitive cones. Mutations at this locus have been identified in patients with achromatopsia (total color blindness).
Entry Terms : "CNGA3 Gene Mutation Detection Reagents"
UMDC code : 24350