XPC
XPC complex subunit, DNA damage recognition and repair factor
Normal Function
Health Conditions Related to Genetic Changes
Xeroderma pigmentosum
Many variants (also called mutations) in the XPC gene have been found to cause xeroderma pigmentosum. People with this condition have an extreme sensitivity to UV rays from sunlight. As a result, affected individuals have a high risk of sunlight-induced cancer and premature aging.
Variants in the XPC gene are the most common cause of this disorder in the United States and Europe. Most XPC gene variants prevent the production of any XPC protein. A loss of this protein keeps cells from repairing DNA damage normally. As damage builds up in DNA, cells malfunction and eventually become cancerous or die.
These problems with DNA repair cause people with xeroderma pigmentosum to be extremely sensitive to UV rays. When UV rays damage genes that control cell growth and division, cells can grow too fast and in an uncontrolled way. This uncontrolled cell growth can lead to cancer. In people with xeroderma pigmentosum, cancers occur most frequently in areas of the body that are exposed to the sun, such as the skin and eyes.
Individuals with xeroderma pigmentosum caused by variants in the XPC gene may have an increased risk of early menopause compared to the general population. Unlike some of the other forms of xeroderma pigmentosum, when the disorder is caused by variants in the XPC gene it is generally not associated with neurological abnormalities (such as delayed development and hearing loss). It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not.
More About This Health ConditionRelated Conditions
Xeroderma pigmentosum
Health Conditions Related to Genetic Changes
Many variants (also called mutations) in the XPC gene have been found to cause xeroderma pigmentosum. People with this condition have an extreme sensitivity to UV rays from sunlight. As a result, affected individuals have a high risk of sunlight-induced cancer and premature aging.
Variants in the XPC gene are the most common cause of this disorder in the United States and Europe. Most XPC gene variants prevent the production of any XPC protein. A loss of this protein keeps cells from repairing DNA damage normally. As damage builds up in DNA, cells malfunction and eventually become cancerous or die.
These problems with DNA repair cause people with xeroderma pigmentosum to be extremely sensitive to UV rays. When UV rays damage genes that control cell growth and division, cells can grow too fast and in an uncontrolled way. This uncontrolled cell growth can lead to cancer. In people with xeroderma pigmentosum, cancers occur most frequently in areas of the body that are exposed to the sun, such as the skin and eyes.
Individuals with xeroderma pigmentosum caused by variants in the XPC gene may have an increased risk of early menopause compared to the general population. Unlike some of the other forms of xeroderma pigmentosum, when the disorder is caused by variants in the XPC gene it is generally not associated with neurological abnormalities (such as delayed development and hearing loss). It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not.