Nuclear pore complex protein Nup205

NUP205 (Nuclear pore complex protein Nup205) is a large scaffolding nucleoporin essential for nuclear pore complex (NPC) assembly and maintenance (UniProt: Q92621). It anchors multiple nucleoporins including NUP62 to the NPC and participates in nuclear protein transport, potentially in association with TMEM209.

In the kidney, NUP205 mutations cause Nephrotic syndrome 13 (NPHS13; MIM 616893), a steroid-resistant renal disease characterized by proteinuria and glomerulosclerosis (UniProt: Q92621). The protein's broader tissue distribution and role in nucleocytoplasmic transport suggest potential relevance to other organ systems.

NUP205 is upregulated in Alzheimer's disease brain tissue compared to age-matched controls, with a mean log2 fold-change of 0.434 across examined subcellular fractions in post-mortem human AD brain by mass spectrometry (Chaparral AD proteomics). This elevation may reflect compensatory changes or dysregulation of nuclear transport mechanisms associated with AD pathology.