Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 06
PTPRO

References:

1.

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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2.

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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3.

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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4.

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

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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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Update: Sept. 26, 2018