Protein-Tyrosin-Phosphatase vom Rezeptortyp O
Das PTPRO-Gene kodiert eine rezeptorartige Protein-Tyrosinphosphatase, welche auf der apikalen Zellmembran zu finden ist. Inaktivierende Mutationen sind für das autosomal rezessive kongenitale nephrotische Syndrom Typ 6 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020