Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Exportin-5

The XPO5 gene encodes a protein which is member of the karyopherin family. These proteins are responsible for transport of small RNAs and RNA-binding proteins from the nucleus to the cytoplasm. A missense mutation was described in association with congenital nephrotic syndrome. However an involment of this gene in the pathogenesis of nephrotic syndrome is not generally accepted.

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:

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
NPHS1
Congenital nephrotic syndrome type 02
NPHS2
Congenital nephrotic syndrome type 03
PLCE1
Congenital nephrotic syndrome type 04
WT1
Congenital nephrotic syndrome type 05 (Pierson syndrome)
LAMB2
Congenital nephrotic syndrome type 06
PTPRO
Congenital nephrotic syndrome type 07
DGKE
Congenital nephrotic syndrome type 08
ARHGDIA
Congenital nephrotic syndrome type 09
COQ8B
Congenital nephrotic syndrome type 10
EMP2
Congenital nephrotic syndrome type 11
NUP107
Congenital nephrotic syndrome type 12
NUP93
Congenital nephrotic syndrome type 13
NUP205
Donnai-Barrow syndrome
LRP2
GPC5
Glomerulotubular nephropathy
FAT1
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3
Lipoprotein glomerulopathy
APOE
Schimke Immunoosseous dysplasia
SMARCAL1
XPO5

References:

1.

Nagase T et. al. (1999) Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

Brownawell AM et. al. (2002) Exportin-5, a novel karyopherin, mediates nuclear export of double-stranded RNA binding proteins.

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3.

Gwizdek C et. al. (2003) Exportin-5 mediates nuclear export of minihelix-containing RNAs.

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4.

Lund E et. al. (2004) Nuclear export of microRNA precursors.

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5.

Okada C et. al. (2009) A high-resolution structure of the pre-microRNA nuclear export machinery.

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6.

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

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Update: Sept. 26, 2018