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:
Related Diseases:
References:
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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
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4. |
NCBI article
NCBI 63929
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5. |
OMIM.ORG article
Omim 613553
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6. |
Wikipedia article
Wikipedia EN (XPNPEP3)
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Update: Aug. 14, 2020