Gene Symbol | PDE6C |
Entrez Gene ID | 5146 |
Full Name | phosphodiesterase 6C |
Synonyms | ACHM5,COD4,PDEA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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). [provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Cone dystrophy 4, 613093 (3) |