Literature associating NUP98 and Weaver syndrome
Nuclear pore complex protein Nup98-Nup96; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes. Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body); Nucleoporins
Synonyms: NUP98, NUP98p, hNUP98, E9PNN0, NUP98-001 ...