NEDD4
Nedd4: An E3 Ubiquitin Ligase with Diverse Roles in Health and Disease
Description
Nedd4 (Neural precursor cell-expressed developmentally downregulated 4) is an E3 ubiquitin ligase that plays a crucial role in the ubiquitin-proteasome pathway (UPP), a cellular mechanism that regulates protein degradation. Nedd4 catalyzes the transfer of ubiquitin molecules onto target proteins, marking them for degradation by the proteasome. This process is essential for eliminating damaged or misfolded proteins, maintaining protein homeostasis, and modulating cellular signaling pathways.
Associated Diseases
Nedd4 is implicated in a range of human diseases, including:
- Neurodegenerative Disorders: Nedd4 is dysregulated in various neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. It is involved in the degradation of the amyloid precursor protein (APP), the precursor of amyloid beta plaques that accumulate in Alzheimer's disease.
- Immunodeficiency: Nedd4 is essential for the development and function of the immune system. Mutations in the Nedd4 gene can lead to severe combined immunodeficiency (SCID), characterized by a profound deficiency in immune responses.
- Cancer: Nedd4 plays a complex role in cancer development. It can function as a tumor suppressor by eliminating oncoproteins but also contribute to tumor growth by promoting the degradation of tumor suppressors.
- Cardiovascular Diseases: Nedd4 is involved in regulating blood pressure and heart function. Dysregulation of Nedd4 can contribute to hypertension and cardiac hypertrophy.
Did you Know ?
- In the United States, the estimated prevalence of SCID caused by Nedd4 mutations is approximately 1 in 30,000 newborns.
