TCTE3
Unveiling the Complexities of the TCTE3 Gene
Description
The TCTE3 gene, located on chromosome 1, encodes a protein called TCTE3, which plays a crucial role in transcriptional regulation and chromatin remodeling. It has been implicated in various cellular processes, including gene expression, cell cycle progression, and DNA repair.
Associated Diseases
Mutations in the TCTE3 gene have been linked to several genetic disorders, including:
- Coffin-Siris Syndrome: A rare genetic syndrome characterized by distinctive facial features, intellectual disability, and growth delays.
- Mental Retardation and Microcephaly: A condition marked by abnormally small head size and intellectual impairment.
- Cancer: TCTE3 mutations have been identified in certain types of cancer, such as breast and endometrial cancer.
Did you Know ?
Approximately 1 in 200,000 individuals worldwide are estimated to have Coffin-Siris Syndrome caused by TCTE3 mutations.
