PKDREJ
PKDREJ Gene: A Vital Regulator in Cellular Functions
Description
The PKDREJ gene (also known as the polycystin-1, receptor for egg jelly) is a crucial gene involved in numerous cellular processes. It encodes the protein polycystin-1, which is a component of the polycystin complex, a protein network located on the surface of cells. This gene plays a vital role in various cellular functions, including:
1. Calcium Signaling: Polycystin-1 facilitates calcium ion influx into cells, which is essential for various intracellular signaling pathways crucial for cell differentiation, proliferation, and apoptosis.
2. Cell-Cell Interactions: The PKDREJ gene regulates cell-cell interactions through its role in the formation and maintenance of cell junctions. This is crucial for tissue development and the establishment of proper cellular architecture.
3. Developmental Processes: Polycystin-1 is involved in embryonic development, particularly in the formation of kidneys and the central nervous system. Defects in the PKDREJ gene can lead to developmental abnormalities.
Associated Diseases
Mutations and disorders in the PKDREJ gene have been linked to several health conditions, including:
1. Autosomal Dominant Polycystic Kidney Disease (ADPKD): The most common genetic cause of kidney failure in adults, ADPKD is characterized by the formation of multiple cysts in the kidneys. Mutations in the PKDREJ gene account for approximately 85% of cases.
2. Neonatal Polycystic Liver Disease (NPCD): A rare condition that causes numerous cysts in the liver, NPCD is often fatal in infants. It is caused by mutations in either the PKDREJ or PKHD1 gene.
3. Craniofacial Anomalies: Certain mutations in the PKDREJ gene have been associated with craniofacial abnormalities, such as Meckel-Gruber syndrome, characterized by severe brain and facial malformations.
Did you Know ?
The PKDREJ gene is a large gene spanning over 100,000 base pairs and encoding a protein of approximately 4,300 amino acids. It is highly conserved across species, highlighting its fundamental role in cellular function.
