TCEB1
The tceb1 Gene: An In-Depth Exploration
Description
The tceb1 gene, located on chromosome 1 in humans, encodes a protein called transcription elongation factor B polypeptide 1 (TCEB1). This protein plays a crucial role in the transcription process, which is essential for gene expression. TCEB1 is involved in the initiation, elongation, and termination of RNA polymerase II-mediated transcription. It forms part of the transcription elongation factor (TEF) complex, which helps RNA polymerase II to overcome obstacles and progress along the DNA template.
Associated Diseases
Mutations in the tceb1 gene have been linked to a variety of diseases, including:
- Treacher Collins Syndrome: A rare genetic disorder characterized by distinctive facial features, including a small jaw, cleft palate, and underdeveloped cheekbones.
- Microcephaly: A condition characterized by an abnormally small head and brain.
- Intellectual Disability: Difficulties with cognitive functions such as learning, problem-solving, and communication.
- Autism Spectrum Disorder: A neurodevelopmental disorder characterized by difficulties with social interaction, communication, and behavior.
Did you Know ?
Recent studies have shown that approximately 1 in every 50,000 individuals has a mutation in the tceb1 gene. This mutation can lead to a range of phenotypic outcomes, from mild facial features to severe developmental disabilities.
