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Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities

Wiljan J A J Hendriks1, Rafael Pulido

  • 1Department of Cell Biology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. w.hendriks@ncmls.ru.nl

Biochimica Et Biophysica Acta
|May 28, 2013
PubMed

Insights

Protein tyrosine phosphatase (PTP) gene variants are linked to hereditary disorders and disease susceptibilities. This review overviews PTP variants and their consequences, aiding diagnostics and etiology research for future therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Reversible tyrosine phosphorylation is crucial for multicellular organism development and function.
  • Protein tyrosine phosphatase (PTP) enzymes regulate phosphotyrosine dephosphorylation.
  • PTP gene variants are implicated in numerous human hereditary disorders and disease susceptibilities.

Purpose of the Study:

  • To provide a comprehensive overview of PTP gene variants associated with human diseases.
  • To highlight the molecular, cellular, and physiological consequences of these PTP variants.
  • To underscore the importance of PTP research for disease diagnostics and etiology.

Main Methods:

  • Literature review of PTP research spanning over two decades.
  • Compilation of identified PTP genetic variants linked to human disease states.
  • Analysis of the molecular, cellular, and physiological impacts of these variants.

Main Results:

  • A collection of PTP genetic variants and their associated disease links has been documented.
  • These variants have demonstrable consequences at multiple biological levels.
  • The findings have direct implications for diagnosing and understanding the causes of PTP-related diseases.

Conclusions:

  • PTP gene variants are significant contributors to human hereditary disorders.
  • Understanding these variants is crucial for disease diagnostics and etiological research.
  • Further research is needed to translate these findings into effective therapies for related diseases.
Keywords:
AURKABand 4.1/Ezrin/Radixin/MoesinCAMCDCMTCell signalingCharcot–Marie–ToothCrohn's diseaseDEP-1DUSPDensity-enhanced phosphatase-1Disease susceptibilityEYAFERMFNIIIGLEPP1HPEHTTIRIgJMMLKINDMAP kinase phosphataseMKPMSMTMRNSNoonan syndromePDZPHTSPI(3,4,5)P3PRLPSD95/Dlg/ZO-1PTENPTEN hamartoma tumor syndromesPTPPhosphotyrosine dephosphorylationPost-translational modificationRARLSRPTPRTKSCIDSFKSH2SLESNPSTEPSrc homology type 2Src-family tyrosine kinaseX-linked myotubular myopathyXLMTMaurora kinase Acell adhesion moleculedual-specificity PTPeyes absentfibronectin type IIIglomerular epithelial protein 1hereditary haemorrhagic telangiectasiaholoprosencephalyimmunoglobulininsulin receptorjuvenile myelomonocytic leukemiakinase non-catalytic C-lobe domainmultiple sclerosismyotubularin-related proteinphosphatase and tensin homologphosphatase of regenerating liverphosphatidylinositol 3,4,5-triphosphateprotein tyrosine phosphatasereceptor tyrosine kinasereceptor-type PTPrestless legs syndromerheumatoid arthritissevere combined immunodeficiencysingle nucleotide polymorphismstriatal-enriched PTPsystemic lupus erythematosus

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