NUP62 gene

nucleoporin 62

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Striatonigral degeneration infantile

From UniProt:

Infantile striatonigral degeneration (SNDI): 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. [MIM:271930]

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33

Molecular Location: base pairs 49,906,825 to 49,929,731 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33
  • IBSN
  • p62
  • SNDI