PDE6G Chromosome 17

Phosphodiesterase 6G
7 variants 7 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000185527
Associated Conditions (2)
Retinitis pigmentosa
Retinitis pigmentosa 57
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS1555692916 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS181137206 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS546019967 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS775425650 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1598717056 Health Risk Pathogenic Retinitis pigmentosa 57, Retinitis pigmentosa, Retinitis pigmentosa 57
RS2036392272 Health Risk Pathogenic
RS754454113 Health Risk Pathogenic
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