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PDE6C 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).
Gene Name: | phosphodiesterase 6C, cGMP-specific, cone, alpha prime |
Family/Subfamily: | Phosphodiesterase , PDE - photoreceptor |
Synonyms: | PDE6C, CGMP phosphodiesterase 6C, COD4, PDEA2, Phosphodiesterase 6c |
Target Sequences: | NM_006204 NP_006195.3 P51160 |
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