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Related Concept Videos

Protein-protein Interfaces02:04

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Many proteins form complexes to carry out their functions, making protein-protein interactions (PPIs) essential for an organism's survival. Most PPIs are stabilized by numerous weak noncovalent chemical forces. The physical shape of the interfaces determines the way two proteins interact. Many globular proteins have closely-matching shapes on their surfaces, which form a large number of weak bonds. Additionally, many PPIs occur between two helices or between a surface cleft and a...
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Proteins are one of the most abundant organic molecules in living systems and have the most diverse range of functions of all macromolecules. Proteins may be structural, regulatory, contractile, or protective. They may serve in transport, storage, or membranes; or they may be toxins or enzymes. Their structures, like their functions, vary greatly. They are all, however, amino acid polymers arranged in a linear sequence.
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Protein domains are small structurally independent units that are part of a single amino acid chain.  Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
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An organism can have thousands of different proteins, and these proteins must cooperate to ensure the health of an organism. Proteins bind to other proteins and form complexes to carry out their functions. Many proteins interact with multiple other proteins creating a complex network of protein interactions.
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Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
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Protein C Deficiency.

Peyman Dinarvand1, Karen A Moser1

  • 1From the Department of Pathology, Saint Louis University School of Medicine, St Louis, Missouri. Dr Moser is now with the Department of Pathology, University of Utah/ARUP Laboratories, Salt Lake City.

Archives of Pathology & Laboratory Medicine
|February 1, 2019
PubMed
Summary
This summary is machine-generated.

Protein C (PC) deficiency, a thrombophilia risk, presents variably. This review details PC deficiency causes, clinical signs, lab testing interferences, and management strategies.

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Area of Science:

  • Hematology
  • Genetics
  • Clinical Chemistry

Background:

  • Protein C (PC) deficiency is a significant risk factor for thrombophilia.
  • It can be inherited (due to PROC gene mutations) or acquired, with varied clinical manifestations.
  • Presentations range from asymptomatic to severe conditions like neonatal purpura fulminans.

Purpose of the Study:

  • To review the clinical presentations of Protein C deficiency.
  • To discuss laboratory testing, emphasizing potential interferences in PC activity assays.
  • To outline treatment options and prognosis for patients with PC deficiency.

Main Methods:

  • Literature review of Protein C deficiency.
  • Analysis of diagnostic laboratory testing methodologies for PC activity.
  • Focus on factors causing assay interferences (false-positive/negative results).

Main Results:

  • PC deficiency has diverse clinical outcomes, from mild to life-threatening.
  • Laboratory assays for PC activity are susceptible to numerous interferences.
  • Accurate diagnosis requires awareness of these potential assay interferences.

Conclusions:

  • Understanding clinical variability and potential lab interferences is crucial for managing PC deficiency.
  • Appropriate laboratory testing and interpretation are key for effective patient management.
  • Timely diagnosis and treatment can improve outcomes in Protein C deficiency.