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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- LRP2 gene on the US National Library of Medicine website
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