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PDE6H gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDE6H gene

The PDE6H gene provides instructions for the inhibitory subunit of an enzyme required for cone cell phototransduction.

Normal Function

The PDE6H gene provides instructions for making one part (called the inhibitory gamma subunit) of an enzyme called cone-specific phosphodiesterase. This enzyme is found exclusively in light-detecting (photoreceptor) cells called cones, which are located in the retina. Cones provide vision in bright light, including color vision.

During phototransduction, cone-specific phosphodiesterase converts a molecule called cGMP to 5'-GMP. This conversion causes certain channels on the cell membrane to close, which triggers the transmission of visual signals to the brain.

Health Conditions Related to Genetic Changes

Achromatopsia

MedlinePlus Genetics provides information about Achromatopsia.

Other Names for This Gene

  • ACHM6
  • GMP-PDE gamma
  • phosphodiesterase 6H, cGMP-specific, cone, gamma
  • RCD3
  • retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Genomic Location

The PDE6H gene is found on chromosome 12.

Frequently Asked Questions

chromatopsia due to PDE6H follows an autosomal recessive inheritance. Both parents must carry one defective copy; each subsequent child has a 25 % chance of being affected, a 50 % chance of being an asymptomatic carrier, and a 25 % chance of inheriting two normal copies.
Gene‑therapy trials targeting the PDE6H gene are underway, aiming to deliver a functional copy of the gene directly to cone cells. Early-phase studies have shown safety and modest improvements in visual acuity, but these treatments are not yet commercially available.
While true color perception cannot be restored, tinted lenses (e.g., bright‑yellow or orange filters) can reduce glare and improve contrast in bright environments. Additionally, high‑contrast, large‑print materials and electronic magnifiers can enhance functional vision during daylight activities.
Encourage the use of broad‑brimmed hats, UV‑blocking sunglasses with polarized lenses, and indoor lighting that is soft and evenly distributed. Limiting screen time in very bright rooms and using matte screen protectors can also lessen glare‑induced discomfort.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.