jueves, 29 de enero de 2015

PDE6C - phosphodiesterase 6C, cGMP-specific, cone, alpha prime - Genetics Home Reference

PDE6C - phosphodiesterase 6C, cGMP-specific, cone, alpha prime - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the PDE6C gene?

The official name of this gene is “phosphodiesterase 6C, cGMP-specific, cone, alpha prime.”
PDE6C is the gene's official symbol. The PDE6C 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 PDE6C gene?

The PDE6C gene provides instructions for making one part (called the alpha-prime 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 PDE6C gene share characteristics with other genes?

The PDE6C 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 PDE6C gene related to health conditions?

achromatopsia - caused by mutations in the PDE6C gene
At least 19 mutations in the PDE6C gene have been found to cause the vision disorder achromatopsia. These mutations underlie a relatively small percentage of cases of complete achromatopsia, a form of the disorder characterized by a total lack of color vision and other vision problems that are present from early infancy. PDE6C gene mutations have also been identified in a few individuals with incomplete achromatopsia, a milder form of the disorder associated with limited color vision.
The PDE6C gene mutations associated with achromatopsia affect the function of the alpha-prime subunit. The mutations that underlie complete achromatopsia essentially eliminate the activity 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, people with complete achromatopsia can see only black, white, and shades of gray. They also have other vision problems related to malfunctioning cones, including reduced sharpness (low visual acuity), an increased sensitivity to light (photophobia), and involuntary back-and-forth eye movements (nystagmus).
Mutations in the PDE6C gene that reduce but do not eliminate the activity of cone-specific phosphodiesterase cause incomplete achromatopsia. People with incomplete achromatopsia have similar but less severe vision problems than people with complete achromatopsia, and they retain some color vision.

Where is the PDE6C gene located?

Cytogenetic Location: 10q24
Molecular Location on chromosome 10: base pairs 93,612,587 to 93,665,672
The PDE6C gene is located on the long (q) arm of chromosome 10 at position 24.
The PDE6C gene is located on the long (q) arm of chromosome 10 at position 24.
More precisely, the PDE6C gene is located from base pair 93,612,587 to base pair 93,665,672 on chromosome 10.

Where can I find additional information about PDE6C?

You and your healthcare professional may find the following resources about PDE6C helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PDE6C gene or gene products?

  • ACHM5
  • cGMP phosphodiesterase 6C
  • COD4
  • cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
  • PDEA2

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 PDE6C?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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

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