Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
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.

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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.

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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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Update: Sept. 26, 2018