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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.

Genetests:

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
NUP205

References:

1.

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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2.

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

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3.

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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4.

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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5.

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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6.

NCBI article

NCBI 23165 external link
7.

OMIM.ORG article

Omim 614352 external link
8.

Orphanet article

Orphanet ID 456828 external link
9.

Wikipedia article

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