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UVSSA

UVSSA

Reviewed July 2012

What is the official name of the UVSSA gene?

The official name of this gene is “UV-stimulated scaffold protein A.”

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

The UVSSA gene provides instructions for making a protein that is involved in repairing DNA damaged by ultraviolet (UV) rays from the sun. The damage can block vital cell activities such as gene transcription, which is the first step in protein production. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death.

Cells have several mechanisms to correct DNA damage. The UVSSA protein is involved in one mechanism that repairs damaged DNA within active genes (those genes undergoing gene transcription). When DNA in active genes is damaged, the enzyme that carries out gene transcription (RNA polymerase) gets stuck, and the process stalls. Researchers think that the UVSSA protein helps remove RNA polymerase from the damaged site, so the DNA can be repaired. Part of the UVSSA protein's role in this process is to ensure that another important protein called CSB is not broken down by exposure to UV rays.

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

UV-sensitive syndrome - caused by mutations in the UVSSA gene

Mutations in the UVSSA gene cause UV-sensitive syndrome, which is a disorder characterized by sun sensitivity. People with this condition sunburn easily and have freckled skin or other changes in skin coloring (pigmentation). At least three UVSSA gene mutations have been identified, and these mutations eliminate the production of the UVSSA protein. Without this protein, skin cells cannot repair DNA damage caused by UV rays, and transcription of damaged genes is blocked. However, it is unclear exactly how a loss of the UVSSA protein causes the signs and symptoms of UV-sensitive syndrome.

Where is the UVSSA gene located?

Cytogenetic Location: 4p16.3

Molecular Location on chromosome 4: base pairs 1,347,254 to 1,388,048

The UVSSA gene is located on the short (p) arm of chromosome 4 at position 16.3.

The UVSSA gene is located on the short (p) arm of chromosome 4 at position 16.3.

More precisely, the UVSSA gene is located from base pair 1,347,254 to base pair 1,388,048 on chromosome 4.

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

Where can I find additional information about UVSSA?

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

  • KIAA1530
  • UVSS3
  • UVSSA_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 UVSSA?

cell ; DNA ; DNA damage ; enzyme ; gene ; gene transcription ; pigmentation ; protein ; RNA ; RNA polymerase ; sensitivity ; sun sensitivity ; syndrome ; transcription ; UV rays

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

See also Understanding Medical Terminology.

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.

 
Reviewed: July 2012
Published: September 15, 2014