PDE6A
Function
Rod-specific cGMP phosphodiesterase that catalyzes the hydrolysis of 3',5'-cyclic GMP (PubMed:20940301). This protein participates in processes of transmission and amplification of the visual signal.
Involvement in disease
Retinitis pigmentosa 43
RP43
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cyclic nucleotide phosphodiesterase family.
Cellular localization
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
- Cell projection
- Cilium
- Photoreceptor outer segment
Alternative names
PDEA, PDE6A, GMP-PDE alpha, PDE V-B1