CHMP5

CHMP5 is a human gene that encodes for the protein CHMP5, or Charged Multivesicular Body Protein 5. This protein is a component of the ESCRT-III complex, a group of proteins involved in the formation of multivesicular bodies (MVBs). MVBs are involved in the sorting of endosomal cargo proteins into lysosomes, which are cellular organelles involved in waste disposal and recycling of cellular components.

Function

CHMP5 is involved in the late stages of endosomal sorting, a process that is crucial for the proper functioning of cells. It plays a role in the formation of MVBs, which are involved in the delivery of proteins to lysosomes for degradation. This process is important for maintaining cellular homeostasis and preventing the accumulation of damaged or unnecessary proteins.

Clinical Significance

Mutations in the CHMP5 gene have been associated with various diseases. For example, a mutation in this gene has been linked to primary open-angle glaucoma, a common form of glaucoma. This suggests that CHMP5 may play a role in the pathogenesis of this disease.

Research

Research into the function and role of CHMP5 in disease is ongoing. Understanding the role of this protein in cellular processes and disease could lead to the development of new therapeutic strategies for diseases associated with mutations in this gene.

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The structure of the CHMP5 protein. Image from Wikimedia Commons.

See Also

• ESCRT-III complex
• Multivesicular bodies
• Endosomal sorting
• Lysosomes
• Primary open-angle glaucoma