NUPL2
Nupl2: The Protein Essential for Cellular Homeostasis
Description
Nupl2 (nucleoporin-like 2) is a protein located within the nuclear pore complex (NPC), a structure that regulates the movement of molecules between the nucleus and cytoplasm. It is a component of the Y-complex, a subcomplex of the NPC that is involved in nuclear transport.
The primary function of Nupl2 is to facilitate the transport of ribosomal proteins into the nucleus. It interacts with specific nuclear transport factors and ribosomal proteins to ensure their efficient delivery to the nuclear compartment.
Associated Diseases
Mutations in the Nupl2 gene have been associated with several human diseases, including:
- Dyskeratosis congenita (DC): A genetic disorder characterized by abnormal skin pigmentation, nail dystrophy, and bone marrow failure.
- Revesz syndrome: A neurodegenerative disorder characterized by progressive cognitive decline, ataxia, and parkinsonism.
- Microcephalic primordial dwarfism: A growth disorder characterized by an abnormally small head and body size.
Did you Know ?
- Mutations in Nupl2 are responsible for approximately 10% of cases of dyskeratosis congenita.