NUP107

Description

The NUP107 (nucleoporin 107) is a protein-coding gene located on chromosome 12.

NUP107 is a protein encoded by the NUP107 gene in humans. It is a member of the nucleoporin family and is localized to the nuclear rim. NUP107 is an essential component of the nuclear pore complex (NPC), which regulates the passage of molecules into and out of the nucleus. NUP107 has been shown to interact with NUP133.

NUP107 is involved in the assembly and maintenance of the nuclear pore complex (NPC). It is required for the assembly of peripheral proteins into the NPC and may anchor NUP62 to the NPC. NUP107 also plays a role in nephrogenesis.

NUP107 is also known as NPHS11, NUP84, ODG6, ODG6; GAMOS7.

Associated Diseases

• Genetic steroid-resistant nephrotic syndrome
• Ovarian dysgenesis 6
• Galloway-Mowat syndrome 7
• Galloway-Mowat syndrome
• Nephrotic syndrome, type 11
• 46,XX gonadal dysgenesis