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

Nuclear RNA export factor 5

The NXF5 gene has been observed to be associated with FSGS, but this result is not yet independently confirmed.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5

References:

1.

Herold A et al. (2000) TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture.

external link
2.

Esposito T et al. (2013) Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

external link
3.

NCBI article

NCBI 55998 external link
4.

OMIM.ORG article

Omim 300319 external link
Update: Aug. 14, 2020
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