GTF2E2
Function
Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Involvement in disease
Trichothiodystrophy 6, non-photosensitive
TTD6
A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TFIIE beta subunit family.
Cellular localization
- Nucleus
Alternative names
TF2E2, GTF2E2, Transcription initiation factor IIE subunit beta, TFIIE-beta, General transcription factor IIE subunit 2