NUP62 Polyclonal Antibody

disease:Defects in NUP62 are the cause of infantile striatonigral degeneration (SNDI) [MIM:271930]; also known as infantile bilateral striatal necrosis (IBSN) or infantile bilateral striatal necrosis or familial striatal degeneration. SNDI is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation.,domain:Contains F-X-F-G repeats.,function:Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex.,PTM:O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, amongst which only one in the C-terminal.,similarity:Belongs to the nucleoporin NSP1/NUP62 family.,subcellular location:Central region of the nuclear pore, within the transporter. During mitotic cell division, it associates with the poles of the mitotic spindle.,subunit:Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUPL1.,