GTF2H5
general transcription factor IIH subunit 5
Normal Function
Health Conditions Related to Genetic Changes
Trichothiodystrophy
A few variants (also called mutations) in the GTF2H5 gene have been found to cause trichothiodystrophy. This condition affects many parts of the body. The hallmark of trichothiodystrophy is hair that is sparse and easily broken. Variants in this gene cause the photosensitive form of the condition, which is characterized by an extreme sensitivity to UV rays from sunlight.
GTF2H5 gene variants that cause trichothiodystrophy result in the production of a nonfunctional version of the TTDA protein. A loss of this protein probably causes the TFIIH complex to become unstable, which greatly reduces the amount of this complex within cells. Without enough of the TFIIH complex, cells cannot effectively repair DNA damage caused by UV rays. These problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. It is unclear how the loss of the TTDA protein leads to the other features of the condition, such as slow growth, intellectual disability, and brittle hair.
More About This Health ConditionRelated Conditions
Trichothiodystrophy
Health Conditions Related to Genetic Changes
A few variants (also called mutations) in the GTF2H5 gene have been found to cause trichothiodystrophy. This condition affects many parts of the body. The hallmark of trichothiodystrophy is hair that is sparse and easily broken. Variants in this gene cause the photosensitive form of the condition, which is characterized by an extreme sensitivity to UV rays from sunlight.
GTF2H5 gene variants that cause trichothiodystrophy result in the production of a nonfunctional version of the TTDA protein. A loss of this protein probably causes the TFIIH complex to become unstable, which greatly reduces the amount of this complex within cells. Without enough of the TFIIH complex, cells cannot effectively repair DNA damage caused by UV rays. These problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. It is unclear how the loss of the TTDA protein leads to the other features of the condition, such as slow growth, intellectual disability, and brittle hair.