martes, 2 de diciembre de 2014

RGS9BP - regulator of G protein signaling 9 binding protein - Genetics Home Reference

RGS9BP - regulator of G protein signaling 9 binding protein - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the RGS9BP gene?

The official name of this gene is “regulator of G protein signaling 9 binding protein.”
RGS9BP is the gene's official symbol. The RGS9BP 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 RGS9BP gene?

The RGS9BP gene (which is also known as R9AP) provides instructions for making a protein called RGS9 binding protein. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and color. Within the retina, the protein is associated with light-detecting cells called photoreceptors. As its name suggests, RGS9 binding protein interacts with a protein called RGS9 (which is produced from the RGS9 gene). It anchors the RGS9 protein to photoreceptors and stimulates RGS9's activity.
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 known as phototransduction.) Once photoreceptors have been stimulated by light, they must return to their resting state before they can be stimulated again. RGS9 and RGS9 binding protein are involved in a chemical reaction that helps return photoreceptors to their resting state quickly after light exposure.

How are changes in the RGS9BP gene related to health conditions?

bradyopsia - caused by mutations in the RGS9BP gene
At least six mutations in the RGS9BP 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 RGS9BP gene mutations that cause bradyopsia prevent RGS9 binding protein from anchoring the RGS9 protein to photoreceptor cells. The resulting loss of RGS9 protein 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 RGS9BP 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 RGS9BP gene located?

Cytogenetic Location: 19q13.11
Molecular Location on chromosome 19: base pairs 32,675,406 to 32,678,299
The RGS9BP gene is located on the long (q) arm of chromosome 19 at position 13.11.
The RGS9BP gene is located on the long (q) arm of chromosome 19 at position 13.11.
More precisely, the RGS9BP gene is located from base pair 32,675,406 to base pair 32,678,299 on chromosome 19.

Where can I find additional information about RGS9BP?

You and your healthcare professional may find the following resources about RGS9BP 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 RGS9BP gene or gene products?

  • FLJ45744
  • R9AP
  • regulator of G-protein signaling 9-binding protein
  • RGS9-anchoring protein
  • RGS9 anchor protein

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 RGS9BP?

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.

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