Gigaxonin

Gigaxonin is a protein that in humans is encoded by the GAN gene. It is involved in the process of neurodegeneration, and mutations in this gene have been associated with the rare genetic disorder known as Giant Axonal Neuropathy (GAN).

Function

Gigaxonin is an E3 ubiquitin-protein ligase which is a part of the ubiquitin proteasome system. This system is responsible for the degradation of intracellular proteins. Gigaxonin plays a crucial role in controlling the degradation of specific proteins within the cell, including microtubule-associated protein light chain 3 and tubulin.

Clinical significance

Mutations in the GAN gene, which encodes Gigaxonin, cause Giant Axonal Neuropathy (GAN), a severe neurodegenerative disease. GAN is characterized by the accumulation of intermediate filaments in giant axons, leading to a progressive loss of physical and mental abilities.

Research

Research into Gigaxonin and its role in neurodegeneration is ongoing. Understanding the function of Gigaxonin and the consequences of its mutation could lead to new treatments for GAN and potentially other neurodegenerative diseases.

See also

• Giant Axonal Neuropathy
• Neurodegeneration
• Ubiquitin proteasome system

References

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