LAMP2

LAMP2 (Lysosome-associated membrane protein 2) is a protein that in humans is encoded by the LAMP2 gene. It is a member of the lysosome-associated membrane protein family, which is involved in lysosomal biogenesis and maintenance.

Function

LAMP2 is a type 1 glycoprotein that is primarily associated with the lysosomal membrane. It plays a crucial role in the chaperone-mediated autophagy pathway, a selective degradation process in the lysosome. In this pathway, LAMP2 acts as a receptor for the chaperone protein Hsc70, which recognizes and binds to specific protein substrates destined for degradation.

Clinical significance

Mutations in the LAMP2 gene are associated with Danon disease, a rare X-linked disorder characterized by cardiomyopathy, myopathy, and intellectual disability. The disease is caused by the accumulation of autophagic vacuoles in the muscle cells due to defective LAMP2-mediated autophagy.

Research

Research on LAMP2 has been focused on understanding its role in autophagy and its implications in various diseases. Studies have shown that LAMP2 deficiency can lead to the accumulation of lipofuscin, a type of waste product, in the cell, contributing to cellular aging and related diseases.

See also

• LAMP1
• Lysosome
• Autophagy
• Danon disease

References

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