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RP2

RP2

Reviewed October 2010

What is the official name of the RP2 gene?

The official name of this gene is “retinitis pigmentosa 2 (X-linked recessive).”

RP2 is the gene's official symbol. The RP2 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 RP2 gene?

The RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye (the retina). However, the function of the RP2 protein is not well understood. Studies suggest that it may be involved in transporting proteins within the retina's specialized light receptor cells (photoreceptors). Its role in other types of cells is unknown.

How are changes in the RP2 gene related to health conditions?

retinitis pigmentosa - caused by mutations in the RP2 gene

More than 70 mutations in the RP2 gene have been identified in people with the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness in early childhood followed by progressive daytime vision loss. RP2 gene mutations account for 10 to 15 percent of all cases of X-linked retinitis pigmentosa.

Most mutations in the RP2 gene lead to the production of an abnormally short version of the RP2 protein. A few mutations change single building blocks (amino acids) in the RP2 protein. These changes alter the structure and function of the protein, which probably disrupts the stability or maintenance of photoreceptor cells. A gradual loss of photoreceptors underlies the progressive vision loss characteristic of retinitis pigmentosa.

Where is the RP2 gene located?

Cytogenetic Location: Xp11.3

Molecular Location on the X chromosome: base pairs 46,836,911 to 46,882,357

The RP2 gene is located on the short (p) arm of the X chromosome at position 11.3.

The RP2 gene is located on the short (p) arm of the X chromosome at position 11.3.

More precisely, the RP2 gene is located from base pair 46,836,911 to base pair 46,882,357 on the X chromosome.

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

Where can I find additional information about RP2?

You and your healthcare professional may find the following resources about RP2 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 RP2 gene or gene products?

  • DELXp11.3
  • KIAA0215
  • NM23-H10
  • NME10
  • protein XRP2
  • TBCCD2
  • XRP2
  • XRP2_HUMAN

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 RP2?

acids ; cones ; gene ; photoreceptor ; protein ; receptor ; recessive ; retina ; rods ; tissue ; X-linked recessive

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

See also Understanding Medical Terminology.

References (9 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.

 
Reviewed: October 2010
Published: September 15, 2014