PP7080
The pp7080 Gene: Unraveling Its Role in Health and Disease
Introduction
The pp7080 gene, located on chromosome 17, plays a crucial role in various cellular processes and is associated with a range of diseases. This gene encodes the p70S6 kinase 1 (S6K1), a protein that regulates protein synthesis, cell growth, and metabolism. Let's delve into the details of this fascinating gene, its associated diseases, and the latest research findings.
Description
The pp7080 gene consists of 33 exons and spans approximately 147 kilobases. It produces multiple isoforms of S6K1 through alternative splicing. S6K1 is a serine/threonine kinase that phosphorylates ribosomal protein S6, which is essential for initiating translation and protein synthesis.
Associated Diseases
Mutations in the pp7080 gene have been linked to several diseases, including:
- Tuberous sclerosis complex (TSC): A genetic disorder characterized by benign tumors in multiple organs, including the brain, kidneys, heart, and lungs. Mutations in pp7080 are found in up to 80% of TSC cases.
- Focal cortical dysplasia (FCD): A malformation of the cerebral cortex, leading to seizures and developmental delays. Mutations in pp7080 have been identified in approximately 10-20% of FCD cases.
- Autosomal dominant polycystic kidney disease (ADPKD): A genetic disease characterized by the formation of cysts in the kidneys. Mutations in pp7080 have been associated with a rare form of ADPKD known as TSC-associated ADPKD.
Did you Know ?
A study conducted in 2020 estimated that approximately 1 in 6,000 individuals worldwide have a mutation in the pp7080 gene.
