Occludin

Occludin is a protein that in humans is encoded by the OCLN gene. It is a component of the tight junctions that form between cells in the epithelium and endothelium. Occludin plays a crucial role in the regulation of cell adhesion and the permeability of the intercellular space.

Function

Occludin is a transmembrane protein with two extracellular loops, making it an integral part of the tight junctions. These junctions are responsible for preventing the passage of molecules and ions through the space between cells. They also play a role in maintaining the polarity of cells.

The occludin protein is thought to function as a regulatory component in the assembly and function of tight junctions. Although it is not required for the formation of these junctions, it appears to be necessary for their proper function.

Clinical significance

Mutations in the OCLN gene have been associated with several diseases. For example, a mutation in this gene has been linked to microcephaly, a condition characterized by a smaller than normal head size. Other conditions associated with OCLN gene mutations include band-like calcification with simplified gyration and polymicrogyria (BLCPMG), a rare neurological disorder.

See also

• Tight junction
• Cell adhesion
• Microcephaly
• Band-like calcification with simplified gyration and polymicrogyria

References

<references />

External links

• Occludin at the US National Library of Medicine Medical Subject Headings (MeSH)

This article is a medical stub. You can help WikiMD by expanding it!
Most recent articles Ongoing trials	Wikipedia