Disease-gene associations mined from literature

Literature associating NUP62 and triple-A syndrome

NUP62 [ENSP00000471191]

Nuclear pore glycoprotein p62; Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex. Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation. It might be involved in protein recruitment to the centrosome after nuclear breakdown; Nucleoporins

Synonyms:  NUP62,  NUP62p,  hNUP62,  A0A024QZF1,  M0QX10 ...

Linkouts:  STRING  Pharos  UniProt