PDE6A

Chr 5q32

phosphodiesterase 6A

Aliases:: RP43
MANE:: ENST00000255266.10

OMIM: 180071 ↗NCBI: 5145 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PDE6A · P16499

v62025-08-01

Predicted Aligned Error matrix for PDE6A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

860 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)26%
Low(50–70)3%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.80
retinitis pigmentosa 43
0.71
Retinal dystrophy
0.57
coronary artery disorder
0.54
stroke disorder
0.53
hereditary disease
0.47
intermittent vascular claudication
0.43
cardiovascular disorder
0.43
autosomal recessive retinitis pigmentosa
0.42
PDE6A-related retinopathy
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

Catalytic alpha subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G) (PubMed:20940301). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification. Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (By similarity)