Anti-Human PDE6C Antibody Pair

Product Description: Phosphodiesterase 6C (PDE6C) is a crucial enzyme encoded by the PDE6C gene, specifically functioning as the alpha-prime subunit of cone-specific phosphodiesterase in photoreceptor cells of the retina. PDE6C is composed of a homodimer of alpha-prime subunits and is regulated by smaller proteins, highlighting its complex structural properties essential for its enzymatic function. This enzyme plays a vital role in the phototransduction pathway by hydrolyzing cyclic guanosine monophosphate (cGMP), thereby regulating visual signal transmission in bright light conditions and contributing to color vision. Mutations in the PDE6C gene are primarily associated with achromatopsia, a genetic condition characterized by a complete lack of color vision, and cone dystrophy type 4 (COD4), which leads to progressive vision loss and impaired visual acuity. The enzyme's dysfunction due to these mutations results in disrupted phototransduction, leading to symptoms such as photophobia and nystagmus. Protein Function: As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP [The Uniprot Consortium]