TCEB3CL
tceb3cl: A Key Gene Linked to Neurodevelopmental Disorders and Obesity
Introduction
tceb3cl (transcription elongation factor B polypeptide 3-like) is an essential gene that plays a vital role in numerous cellular processes, including transcription, DNA repair, and cell cycle regulation. Mutations in the tceb3cl gene have been linked to various neurodevelopmental disorders and obesity. This blog post will provide an in-depth exploration of the tceb3cl gene, its associated diseases, the latest research findings, and its broader implications for human health.
Description
The tceb3cl gene consists of 10 exons and is located on chromosome 14q32.12. It encodes a protein called Tceb3cl, which functions as a transcriptional elongation factor. Specifically, Tceb3cl assists RNA polymerase II in elongating newly synthesized RNA transcripts, ensuring the proper expression of genes. In addition, Tceb3cl is involved in DNA repair mechanisms and cell cycle regulation.
Associated Diseases
Mutations in the tceb3cl gene have been associated with several disorders, including:
- Seckel syndrome: A rare genetic condition characterized by severe growth retardation, microcephaly (small head size), and intellectual disability.
- Microcephalic primordial dwarfism: A condition similar to Seckel syndrome, featuring microcephaly, growth retardation, and intellectual disability.
- Mowat-Wilson syndrome: A neurodevelopmental disorder involving facial dysmorphism, intellectual disability, and speech difficulties.
- Obesity: Research suggests that tceb3cl mutations may also contribute to obesity in both humans and animal models.
Did you Know ?
Approximately 1 in every 50,000 newborns is affected by Seckel syndrome, making it a relatively rare condition. However, given the diverse phenotypes associated with tceb3cl mutations, its overall prevalence may be higher than currently estimated.
