PDE6D Chromosome 2
Phosphodiesterase 6D
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What This Gene Does
This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000156973
Associated Conditions (1)
Joubert syndrome 22
Key Variants
RS2048717087
Likely pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS2106261987
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS2106294164
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS2469686850
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS536550976
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS587777156
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS772392692
Pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
RS1559307932
Pathogenic/Likely pathogenic
Joubert syndrome 22, Joubert syndrome 22
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2048717087 | Health Risk | Likely pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS2106261987 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS2106294164 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS2469686850 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS536550976 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS587777156 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS772392692 | Health Risk | Pathogenic | Joubert syndrome 22, Joubert syndrome 22 |
| RS1559307932 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 22, Joubert syndrome 22 |