Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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:

Nephronophthisis-like nephropathy 1
XPNPEP3

References:

1.

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

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2.

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

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3.

Orphanet article

Orphanet ID 227083 [^]
4.

NCBI article

NCBI 63929 [^]
5.

OMIM.ORG article

Omim 613553 [^]
6.

Wikipedia article

Wikipedia EN (XPNPEP3) [^]
Update: April 29, 2019