PDE6C Antibody – Rabbit Polyclonal

PDE6C: Defects in PDE6C are the cause of cone dystrophy type 4 (COD4). An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. Belongs to the cyclic nucleotide phosphodiesterase family.

Protein type: EC 3.1.4.35; Phosphodiesterase

Cellular Component: membrane; plasma membrane

Molecular Function: 3',5'-cyclic-GMP phosphodiesterase activity; phosphoric diester hydrolase activity; hydrolase activity; metal ion binding; nucleotide binding; cGMP binding; 3',5'-cyclic-nucleotide phosphodiesterase activity

Biological Process: phototransduction, visible light; retinal cone cell development; visual perception; sensory perception of light stimulus; response to stimulus; signal transduction