PDE6H

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What is the official name of the PDE6H gene?

The official name of this gene is “phosphodiesterase 6H, cGMP-specific, cone, gamma.”

PDE6H is the gene's official symbol. The PDE6H gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PDE6H gene?

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 a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including color vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).

When light enters the eye, it stimulates specialized pigments in photoreceptor cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. This process is called phototransduction. Cone-specific phosphodiesterase carries out one of the reactions in this process. Specifically, the enzyme converts a molecule called cGMP to another molecule, 5'-GMP, in cones. This conversion causes certain channels on the cell membrane to close. The closing of these channels triggers the transmission of visual signals to the brain.

Does the PDE6H gene share characteristics with other genes?

The PDE6H gene belongs to a family of genes called PDE (phosphodiesterases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the PDE6H gene related to health conditions?

achromatopsia - caused by mutations in the PDE6H gene: At least one mutation in the PDE6H gene has been found to cause the vision disorder achromatopsia. It is a very rare cause of a form of the disorder called incomplete achromatopsia. This condition is characterized by limited color vision and other vision problems that are present from early infancy.
The identified mutation replaces one protein building block (amino acid) near the beginning of the inhibitory gamma subunit with a signal to stop protein production. This mutation is written as Ser12Ter or S12X. This change prevents the production of any functional inhibitory gamma subunit, which interferes with the normal function of cone-specific phosphodiesterase. Impairment of this enzyme disrupts the process of phototransduction in cones; rods are typically unaffected.
Because cones are needed for color vision, affected individuals have difficulty distinguishing certain colors. Their other vision problems are also related to the malfunctioning cones.

Where is the PDE6H gene located?

Cytogenetic Location: 12p13

Molecular Location on chromosome 12: base pairs 14,973,021 to 14,981,864

The PDE6H gene is located on the short (p) arm of chromosome 12 at position 13.

More precisely, the PDE6H gene is located from base pair 14,973,021 to base pair 14,981,864 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PDE6H?

You and your healthcare professional may find the following resources about PDE6H helpful.

Educational resources - Information pages (3 links)
Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (4 links)

What other names do people use for the PDE6H gene or gene products?

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

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PDE6H?

achromatopsia ; amino acid ; cell ; cell membrane ; cones ; enzyme ; gene ; molecule ; mutation ;photoreceptor ; protein ; retina ; retinal cone ; rods ; subunit ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook