ZBED8
Unraveling the Secrets of the ZBED8 Gene: A Comprehensive Guide
Description
The ZBED8 gene (Zinc Finger, BED-Type Containing 8) is a crucial player in the realm of human genetics. It belongs to the family of zinc finger transcription factors, a group of proteins that regulate gene expression by binding to specific DNA sequences. ZBED8 plays a pivotal role in a multitude of biological processes, including cell growth, differentiation, and development.
Associated Diseases
Mutations in the ZBED8 gene have been linked to several genetic disorders, primarily affecting the reproductive system:
- Turner Syndrome: A chromosomal disorder in females characterized by the complete or partial absence of one X chromosome.
- Congenital Dilated Bile Ducts (CDBD): A rare condition resulting in abnormally wide bile ducts.
- Uterine Leiomyomas and Adenomyosis: Non-cancerous growths in the uterus.
Did you Know ?
Research suggests that ZBED8 mutations are estimated to occur in approximately 0.02% of the female population. This relatively low prevalence highlights the rarity of these genetic conditions.