ZPBP2
The zpbp2 Gene: Unveiling its Role in Health and Disease
Introduction
The zpbp2 gene, located on the human chromosome 10q26.13, plays a crucial role in various cellular processes. Encoding the zinc finger protein 2, this gene is involved in gene transcription, DNA repair, and the regulation of cell growth and differentiation. Dysregulation of zpbp2 has been linked to several human diseases, making it an important target for research.
Description of zpbp2 Gene
The zpbp2 gene consists of 10 exons and spans approximately 40 kilobases. It encodes a protein comprising 634 amino acids with several conserved domains, including a zinc finger domain, a leucine zipper motif, and a proline-rich region. The zinc finger domain enables the protein to bind to specific DNA sequences, while the leucine zipper motif facilitates protein-protein interactions.
Associated Diseases
Mutations or dysregulation of the zpbp2 gene have been implicated in the development of several diseases, including:
- Congenital heart defects: Mutations in zpbp2 have been associated with conotruncal heart defects, such as tetralogy of Fallot and truncus arteriosus, which affect the development of the heart's outflow tract.
- Cleft lip and palate: A specific mutation in zpbp2 has been linked to an increased risk of developing cleft lip and palate, a congenital anomaly that results in a split or opening in the lip or palate.
- Cancer: Altered zpbp2 expression has been observed in various types of cancer, including breast, prostate, and colorectal cancer. The exact role of zpbp2 in cancer progression is still being investigated.
Did you Know ?
A recent study found that approximately 1% of individuals with congenital heart defects have mutations in the zpbp2 gene. This statistic highlights the significance of this gene in human development and the potential impact of its mutations on health.
