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Target intelligence / Profile preview
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (PDE6A)
- Target
- PDE6A
- Molecular classification
- Enzyme, Phosphodiesterase, Signal transduction enzyme
01
Overview
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (PDE6A) is an enzyme subunit encoded by the PDE6A gene in humans, highly expressed in rod photoreceptors of the retina. PDE6A is a critical catalytic component of the heterotrimeric PDE6 holoenzyme complex in the phototransduction cascade, responsible for hydrolyzing cGMP to regulate ion channel conductance and signal transmission in response to light. Mutations in PDE6A cause autosomal recessive retinitis pigmentosa, a hereditary retinal degenerative disorder characterized by progressive vision loss[1][2][4][5].
- Other names
- Phosphodiesterase 6A, cGMP-specific, rod, alphaPDE6AcGMP phosphodiesterase 6A alpha subunitRod photoreceptor cGMP phosphodiesterase alpha subunit
02
Mechanism of action
Enzymatic hydrolysis of cyclic GMP (cGMP), reducing its intracellular concentration to mediate rod photoreceptor response to light
03
Biological functions
Visual signal transductioncGMP hydrolysisRegulation of ion channel activityPhototransduction cascade
04
Disease associations
Retinal degenerative diseaseRetinitis pigmentosa
05
Safety considerations
Potential for impaired night vision and permanent photoreceptor damage if PDE6A function is disrupted (e.g., by genetic mutation or non-specific inhibition)
06
Biomarkers
PDE6A gene mutations (as genetic markers for autosomal recessive retinitis pigmentosa)
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