PDE6H Chromosome 12
Phosphodiesterase 6H
Upload your DNA to see your personal genotypes for variants in PDE6H.
What This Gene Does
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000139053
Associated Conditions (3)
Achromatopsia 6
PDE6H-related disorder
Retinal dystrophy
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199740819 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 6, Achromatopsia 6 |
| RS200311463 | Health Risk | Conflicting classifications of pathogenicity | PDE6H-related disorder, Retinal dystrophy, Achromatopsia 6 |