Gene Symbol | PDE6G |
Entrez Gene ID | 5148 |
Full Name | phosphodiesterase 6G |
Synonyms | PDEG,RP57 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 57, 613582 (3) |