Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Nuclear pore complex protein Nup93

The Nup93 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 12.

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 12
NUP93

References:

1.

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

external link
2.

Nagase T et al. (1995) Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

external link
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.

external link
4.

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

external link
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.

external link
6.

Orphanet article

Orphanet ID 456826 external link
7.

NCBI article

NCBI 9688 external link
8.

OMIM.ORG article

Omim 614351 external link
9.

Wikipedia article

Wikipedia EN (Nucleoporin_93) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues