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Related Concept Videos

Gap Junctions01:37

Gap Junctions

Multicellular organisms employ a variety of ways for cells to communicate with each other. Gap junctions are specialized proteins that form pores between neighboring cells in animals, connecting the cytoplasm between the two, and allowing for the exchange of molecules and ions. They are found in a wide range of invertebrate and vertebrate species, mediate numerous functions including cell differentiation and development, and are associated with numerous human diseases, including cardiac and...
Gap Junctions01:27

Gap Junctions

The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
Tight Junctions01:29

Tight Junctions

Tight junctions are molecular seals between cells that prevent the leaking of fluids, ions, and other small solutes across cavities and compartments in multicellular organisms. They are mainly composed of claudin and occludin transmembrane proteins, and other proteins such as tricellulin and JAM (junctional adhesion molecule). All these proteins are 4-pass transmembrane proteins, except JAM, which is a single-pass transmembrane protein belonging to the immunoglobulin superfamily. The...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Overview of Cell-Cell Junctions01:14

Overview of Cell-Cell Junctions

The complex three-dimensional arrangement of cells in any multicellular organism is defined and maintained by interactions of cells with each other and the extracellular matrix. Cell-cell junctions are specialized structures where the multi-protein complexes on one cell interact with the multi-protein complexes on another  cell. These cell junctions are classified  into three main types based on their function — occluding, anchoring, and gap junctions.
Occluding or Tight Junctions
Tight...
Contact-dependent Signaling01:19

Contact-dependent Signaling

Contact-dependent signaling, as the name suggests, requires that communicating cells be in direct contact with each other. This is achieved either through receptor-ligand interactions or by specialized cytoplasmic channels that allow the flow of small molecules between cells. In animal cells, channels called gap junctions facilitate contact-dependent signaling in certain tissues, whereas, plasmodesmata perform a similar function in plants.
Gap Junctions
In animal cells, gap junctions are formed...

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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Gap junctions in inherited human disease.

Georg Zoidl1, Rolf Dermietzel

  • 1Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, University Street 150, Bochum, 44801, Germany. georg.zoidl@rub.de

Pflugers Archiv : European Journal of Physiology
|February 9, 2010
PubMed
Summary
This summary is machine-generated.

Gap junctions, formed by connexin proteins, enable cell communication vital for health. Mutations in these channels are linked to numerous human diseases, highlighting their critical physiological roles.

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Area of Science:

  • Molecular Biology
  • Cell Biology
  • Physiology

Background:

  • Gap junctions (GJ) facilitate direct intercellular communication via connexin (Cx) protein channels.
  • These channels connect adjacent cell cytoplasms, allowing exchange of ions, nutrients, and metabolites.
  • This intercellular communication is essential for electrical coupling and metabolic balance in various tissues.

Purpose of the Study:

  • To highlight the crucial role of gap junctional communication in physiological processes.
  • To underscore the significance of connexin proteins in cellular and tissue function.
  • To emphasize the link between connexin mutations and human diseases.

Main Methods:

  • Review of genetic approaches identifying connexin mutations.
  • Analysis of the physiological consequences of impaired gap junction function.
  • Correlation of connexin defects with specific human pathologies.

Main Results:

  • A growing number of connexin mutations are associated with human diseases.
  • Impaired gap junction communication contributes to conditions like deafness, skin disorders, neuropathies, cataracts, and cardiovascular dysfunction.
  • Genetic studies confirm the essential role of GJ communication in diverse physiological processes.

Conclusions:

  • Gap junctional communication mediated by connexins is indispensable for normal physiological function.
  • Connexin gene mutations are a significant cause of various inherited human disorders.
  • Understanding GJ function is critical for diagnosing and potentially treating related diseases.