Choroby człowieka wywołane mutacjami genów kodujących koneksyny

Marcin Gradowski¹, Urszula Jankiewicz¹, *Paweł Kowalczyk²

Summary
Intercellular communication plays an important role in maintaining the normal function of tissues and the regulation of proliferation, differentiation, and cell death. This is extremely important connexin transmembrane proteins forming structures called konecsons. These structures are part of the water channels called gap-type connections. There are four types of these connections, depending on the isoforms constituent connexins. So far, humans understood 21 isoforms of connexins in mice 19th A connexin protein with a short half-life, the life cycle of these proteins is regulated by phosphorylation mechanism/dephosphorylation. Genes encoding these proteins are localized in humans on a number of chromosomes, may form clusters. Mutations in genes encoding connexin cause severe inherited disorders in humans, such as deafness, associated or not with a skin disease, or ODD syndrome, which is a condition plejotropicznym. Because of the important role they play in the connexin intercellular communication, and indirectly in the maintenance of homeostasis of the whole organism, it is important to further study the properties and functions of these proteins.

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