martes, 2 de diciembre de 2014

RGS9 - regulator of G-protein signaling 9 - Genetics Home Reference

RGS9 - regulator of G-protein signaling 9 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the RGS9 gene?

The official name of this gene is “regulator of G-protein signaling 9.”
RGS9 is the gene's official symbol. The RGS9 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 RGS9 gene?

The RGS9 gene provides instructions for making two versions (isoforms) of the RGS9 protein, known as RGS9-1 and RGS9-2. They are found in different parts of the nervous system and have very different functions.
RGS9-1 is produced in the retina, which is the specialized tissue at the back of the eye that detects light and color. Within the retina, RGS9-1 is associated with light-detecting cells called photoreceptors. When light enters the eye, it stimulates specialized pigments in these 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 known as phototransduction.) Once photoreceptors have been stimulated by light, they must return to their resting state before they can be stimulated again. RGS9-1 is involved in a chemical reaction that helps return photoreceptors to their resting state quickly after light exposure.
RGS9-2 is found primarily in an area deep within the brain called the striatum. Although its exact role is unknown, RGS9-2 appears to be part of signaling pathways involving a chemical messenger (neurotransmitter) called dopamine. These pathways are important for planning and coordinating movement. Studies suggest that RGS9-2 also plays a role in the brain's response to opioid drugs, such as morphine and cocaine.

How are changes in the RGS9 gene related to health conditions?

bradyopsia - caused by mutations in the RGS9 gene
At least two mutations in the RGS9 gene have been found to cause bradyopsia, a rare condition that affects vision. In people with bradyopsia, the eyes adapt more slowly than usual to changing light conditions (for example, walking out of a darkened movie theater into daylight or driving into a dark tunnel on a sunny day). Some affected individuals also have difficulty seeing small moving objects, such as a tennis ball.
The RGS9 gene mutations that cause bradyopsia greatly reduce or eliminate the function of RGS9-1 in photoreceptors. (These mutations do not appear to affect the function of RGS9-2 in the brain.) A loss of RGS9-1 function prevents photoreceptors from recovering quickly after responding to light. Normally they return to their resting state in a fraction of a second, but in people with RGS9 gene mutations, it can take ten seconds or longer. During that time, the photoreceptors cannot respond to light. This delay causes temporary blindness in response to changing light conditions and may interfere with seeing small objects when they are in motion.

Where is the RGS9 gene located?

Cytogenetic Location: 17q24
Molecular Location on chromosome 17: base pairs 65,137,337 to 65,227,702
The RGS9 gene is located on the long (q) arm of chromosome 17 at position 24.
The RGS9 gene is located on the long (q) arm of chromosome 17 at position 24.
More precisely, the RGS9 gene is located from base pair 65,137,337 to base pair 65,227,702 on chromosome 17.

Where can I find additional information about RGS9?

You and your healthcare professional may find the following resources about RGS9 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 RGS9 gene or gene products?

  • MGC111763
  • MGC26458
  • regulator of G-protein signalling 9
  • RGS9L

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 RGS9?

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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