LRP2

LRP2 or Low-density lipoprotein receptor-related protein 2 is a protein that in humans is encoded by the LRP2 gene. It is also known as megalin and plays a significant role in the body's metabolism and clearance of lipoproteins and other substances.

Function

LRP2 is a member of the LDL receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. LRP2 is a large endocytic receptor that is widely expressed and is thought to be involved in lipid metabolism, cell growth and development, and the pathogenesis of Alzheimer's disease.

Clinical significance

Mutations in the LRP2 gene have been associated with Donnai-Barrow syndrome and other diseases. Donnai-Barrow syndrome is a rare disorder characterized by agenesis of the corpus callosum, enlarged anterior fontanelle, intellectual disability, and other physical abnormalities.

See also

• Low-density lipoprotein receptor
• Donnai-Barrow syndrome
• Alzheimer's disease

References

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External links

• LRP2 gene on the US National Library of Medicine website

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