PDE6C Recombinant Protein

Catalytic activity: Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

Cofactor: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions

By similarity.

Subunit structure: Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa.

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side

Potential.

Involvement in disease: Cone dystrophy 4 (COD4) [MIM:613093]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Belongs to the cyclic nucleotide phosphodiesterase family.Contains 2 GAF domains.