NUPL1
Understanding Nupl1: A Comprehensive Overview
Description
Nupl1, also known as nucleoporin 153, is a nuclear envelope protein that plays a crucial role in nuclear transport. It is a component of the nuclear pore complex (NPC), a large protein structure that regulates the movement of molecules between the nucleus and cytoplasm. Nupl1 interacts with other nucleoporins and is essential for maintaining the integrity and function of the NPC.
Associated Diseases
Mutations in the Nupl1 gene have been linked to several genetic disorders, including:
- X-linked pontocerebellar hypoplasia (XLPH): A rare neurodegenerative disorder characterized by progressive degeneration of the cerebellum and brainstem.
- Spastic ataxia 5 (SPAX5): A genetic condition that affects the nervous system, causing progressive muscle weakness, spasticity, and impaired coordination.
- Congenital amegakaryocytic thrombocytopenia (CAMT): A rare blood disorder characterized by a lack of platelets, leading to severe bleeding problems.
Did you Know ?
Approximately 1 in 50,000 males are affected by XLPH, making it a relatively rare condition. However, it is the most common type of pontocerebellar hypoplasia.
