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X-prolyl aminopeptidase 3

The XPNPEP3 gene encodes an aminopeptidase which removes tha last amino acod from a chain if the penultimate is a proline. Mutations cause autosomal recessive nephronophthisis-like nephropathy 1.


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:

Nephronophthisis-like nephropathy 1



O'Toole JF et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

external link

Erşahin C et al. (2005) Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions.

external link

Orphanet article

Orphanet ID 227083 external link

NCBI article

NCBI 63929 external link

OMIM.ORG article

Omim 613553 external link

Wikipedia article

Wikipedia EN (XPNPEP3) external link
Update: Aug. 14, 2020
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