Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The PTPRO gene encodes a receptor-type protein tyrosine phosphatase that is localized on the apical membrane. Loss-of-function mutations cause autosomal recessive congenital nephrotic syndrome type 6.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Ozaltin F et al. (2011) Disruption of PTPRO causes childhood-onset nephrotic syndrome. 
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| 2. |
Wharram BL et al. (2000) Altered podocyte structure in GLEPP1 (Ptpro)-deficient mice associated with hypertension and low glomerular filtration rate.
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| 3. |
Motiwala T et al. (2003) Suppression of the protein tyrosine phosphatase receptor type O gene (PTPRO) by methylation in hepatocellular carcinomas.
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| 4. |
Motiwala T et al. (2004) Protein tyrosine phosphatase receptor-type O (PTPRO) exhibits characteristics of a candidate tumor suppressor in human lung cancer.
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| 5. |
Wiggins RC et al. (1995) Molecular cloning of cDNAs encoding human GLEPP1, a membrane protein tyrosine phosphatase: characterization of the GLEPP1 protein distribution in human kidney and assignment of the GLEPP1 gene to human chromosome 12p12-p13.
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| 6. |
Seimiya H et al. (1995) Cloning, expression and chromosomal localization of a novel gene for protein tyrosine phosphatase (PTP-U2) induced by various differentiation-inducing agents.
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| 7. |
NCBI article NCBI 5800
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| 8. |
OMIM.ORG article Omim 600579
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| 9. |
Orphanet article Orphanet ID 270424
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| 10. |
Wikipedia article Wikipedia EN (PTPRO)
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