NUP160
Function
Functions as a component of the nuclear pore complex (NPC) (PubMed:11564755, PubMed:11684705). Involved in poly(A)+ RNA transport.
Involvement in disease
Nephrotic syndrome 19
NPHS19
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS19 is an autosomal recessive, steroid-resistant form with onset in the first or second decade of life, resulting in chronic kidney disease.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Nuclear pore complex
Alternative names
KIAA0197, NUP120, NUP160, Nuclear pore complex protein Nup160, 160 kDa nucleoporin, Nucleoporin Nup160