TCEB3C
Unraveling the Mysteries of TCEB3C Gene
Description
The TCEB3C gene, located on chromosome 19, encodes a protein known as transcription elongation factor B (SIII), subunit 3. This protein plays a crucial role in regulating transcription, the process by which genetic information from DNA is converted into RNA.
TCEB3C is a component of the transcription elongation factor B (TFIIS) complex, which assists RNA polymerase II, the enzyme responsible for synthesizing RNA, in overcoming obstacles during transcription. It facilitates the release of RNA polymerase from paused or arrested states, ensuring efficient and uninterrupted gene expression.
Associated Diseases
Mutations in the TCEB3C gene have been linked to several diseases and conditions, including:
- Trichothiodystrophy (TTD): A rare genetic disorder characterized by extreme sensitivity to ultraviolet light, brittle hair and nails, and developmental delays. Mutations in TCEB3C are responsible for approximately 15% of TTD cases.
- Cockayne syndrome (CS): A severe neurodegenerative disorder that affects children. Individuals with CS have a shortened lifespan and suffer from progressive neurological problems, such as hearing loss and developmental regression. Mutations in TCEB3C contribute to a small proportion of CS cases.
- Other genetic disorders: Mutations in TCEB3C have been implicated in other rare genetic conditions, including microcephaly (small head size), intellectual disability, and craniofacial abnormalities.
Did you Know ?
Research suggests that approximately 1 in 50,000 individuals worldwide have a mutation in the TCEB3C gene. The majority of these mutations are inherited from parents who carry the gene in a recessive form.
