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:
Related Diseases:
References:
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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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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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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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Orphanet article
Orphanet ID 456826
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NCBI article
NCBI 9688
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OMIM.ORG article
Omim 614351
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Wikipedia article
Wikipedia EN (Nucleoporin_93)
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Update: Aug. 14, 2020