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Nuclear pore complex protein Nup205

The Nup205 gene encodes a nucleoporin. Nucleoporins are responsible for transport of substances from the nucleus (mainly RNAs) and to the nucleus (mainly proteins). Mutations of this gene cause autosomal recessive nephrotic syndrome 13.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 13



Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

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Braun DA et al. (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

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Grandi P et al. (1997) Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly.

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Miller BR et al. (2000) Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay.

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Hawryluk-Gara LA et al. (2005) Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex.

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NCBI article

NCBI 23165 external link

OMIM.ORG article

Omim 614352 external link

Orphanet article

Orphanet ID 456828 external link

Wikipedia article

Wikipedia EN (Nucleoporin_205) external link
Update: Aug. 14, 2020
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