THEG
The THEG Gene
Description
The THG gene encodes a protein called transcript elongation factor SPT5 homolog (or SPT5H). This protein is essential for the initiation of transcription, the process by which genetic information from DNA is copied into RNA. SPT5H is one of several proteins that form the general transcription factor IIH (TFIIH), which is required for the assembly of RNA polymerase II, the enzyme that catalyzes transcription, at the promoter region of a gene.
Associated Diseases
Mutations in the THEG gene have been linked to a number of human diseases, including:
- Cohesinopathy: A group of disorders that affect the function of the cohesin complex, which is essential for chromosome segregation during mitosis. Cohesinopathy can lead to developmental delays, intellectual disability, and physical abnormalities.
- X-linked intellectual disability: A rare form of intellectual disability that is caused by mutations in the THEG gene on the X chromosome.
- Autism spectrum disorder: Mutations in the THEG gene have been identified in some individuals with autism spectrum disorder, although the exact role of the gene in this condition is not fully understood.
Did you Know ?
Mutations in the THEG gene are relatively rare, but they can have a significant impact on health. For example, cohesinopathy, which is caused by mutations in the THEG gene, is estimated to affect 1 in 50,000 newborns.
