LDL-receptor-related protein-associated protein
LDL-receptor-related protein-associated protein (LRPAP) is a protein that in humans is encoded by the LRPAP1 gene. This protein is involved in the regulation of the low-density lipoprotein receptor (LDLR) family, which plays a crucial role in the metabolism of lipoproteins and the clearance of lipoprotein particles from the bloodstream.
Function[edit | edit source]
LRPAP acts as a molecular chaperone for members of the low-density lipoprotein receptor family, including the LDL receptor-related protein (LRP). It assists in the proper folding and trafficking of these receptors from the endoplasmic reticulum to the Golgi apparatus and ultimately to the cell membrane. By doing so, LRPAP ensures that these receptors are correctly presented on the cell surface, where they can bind and internalize their respective ligands.
Structure[edit | edit source]
The LRPAP protein is composed of several domains that facilitate its interaction with the LDL receptor family members. These domains include a binding domain that interacts with the receptor and a chaperone domain that assists in protein folding.
Clinical Significance[edit | edit source]
Mutations in the LRPAP1 gene can lead to various metabolic disorders due to the improper functioning of the LDL receptor family. Such mutations can result in conditions like familial hypercholesterolemia, where the clearance of low-density lipoprotein (LDL) particles from the blood is impaired, leading to elevated levels of cholesterol and an increased risk of cardiovascular disease.
Research[edit | edit source]
Ongoing research is focused on understanding the detailed mechanisms by which LRPAP interacts with the LDL receptor family and how mutations in the LRPAP1 gene contribute to metabolic diseases. This research has potential implications for the development of new therapeutic strategies for conditions like hypercholesterolemia and other lipid metabolism disorders.
See Also[edit | edit source]
- Low-density lipoprotein receptor
- Lipoprotein
- Endoplasmic reticulum
- Golgi apparatus
- Familial hypercholesterolemia
- Cardiovascular disease
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
