PDE6C (NP_006195, 3 a.a. ~ 100 a.a) partial recombinant protein with GST tag. The sequence is EINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESALC LELLWTVQEEGGTPEQGVHRALQRLAHLLQADRCSMFL
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4).
Pathway
Purine metabolism; Visual signal transduction: Cones;
Citations
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