NUP107 encodes nucleoporin 107, a structural component of the nuclear pore complex (NPC) that plays critical roles in nuclear transport and cellular function. The protein is essential for NPC assembly and maintenance, particularly in anchoring peripheral proteins and potentially NUP62 to the complex 1. NUP107 exhibits tissue-specific functions, with particular importance in ovarian development and nephrogenesis. Mutations in NUP107 cause autosomal recessive disorders including primary ovarian insufficiency, where a conserved missense mutation specifically disrupts ovarian follicular development while leaving extragonadal NPC function intact 23. The gene is also associated with nucleoporin-associated steroid-resistant nephrotic syndrome, typically presenting around age 4 years with focal segmental glomerulosclerosis and progression to kidney failure by median age 7 years 4. Recent research reveals NUP107's vulnerability in neurodegenerative diseases, where its loss contributes to TDP-43 pathology in amyotrophic lateral sclerosis through NPC dysfunction and impaired nucleocytoplasmic transport 5. Additionally, NUP107 is crucial for proper NPC spatial organization during neuronal maturation, with torsinA coordinating its localization 6. These findings highlight NUP107's diverse roles across different cell types and disease contexts.