NUP62

Chr 19AR

nucleoporin 62

Also known as: IBSN, SNDI, p62

NCBI Gene: 23636 ENSG00000213024 UniProt: P37198 OMIM: 605815

The protein is an essential component of the nuclear pore complex that regulates transport of macromolecules between the nucleus and cytoplasm, and also plays a role in mitotic cell cycle progression by regulating centrosome segregation and spindle orientation. Mutations cause infantile striatonigral degeneration with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), consistent with the severe early-onset neurodegeneration affecting the basal ganglia.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…