TTC30B
The ttc30b Gene: A Vital Player in Reproduction and Disease
Description
The ttc30b gene, located on chromosome 17, encodes a protein called tetratricopeptide repeat domain 30B (TTC30B). This protein plays a crucial role in several cellular processes, particularly in DNA damage repair and meiotic cell division.
During meiosis, the process by which reproductive cells (eggs and sperm) are formed, TTC30B forms a complex with other proteins to ensure the proper segregation of chromosomes. This is essential for the production of viable gametes (eggs and sperm) with the correct number of chromosomes.
Associated Diseases
Mutations in the ttc30b gene have been linked to several human diseases, including:
- Infertility: TTC30B mutations can disrupt meiosis and lead to infertility in both men and women.
- Microcephalic primordial dwarfism: This rare genetic disorder is characterized by severe growth retardation, intellectual disability, and microcephaly (small head size). Mutations in TTC30B are a common cause of this condition.
- Fanconi anemia: A group of rare genetic disorders characterized by bone marrow failure, developmental defects, and an increased risk of cancer. Mutations in TTC30B can contribute to the development of Fanconi anemia.
Did you Know ?
Research has shown that mutations in the ttc30b gene are responsible for approximately 5-10% of cases of male infertility. This underscores the significant role of this gene in human reproduction.
