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Protein tyrosine phosphatase, receptor type, O

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

Related Diseases:

Congenital nephrotic syndrome type 06



Ozaltin F et al. (2011) Disruption of PTPRO causes childhood-onset nephrotic syndrome.

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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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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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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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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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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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NCBI article

NCBI 5800 external link

OMIM.ORG article

Omim 600579 external link

Orphanet article

Orphanet ID 270424 external link

Wikipedia article

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