What is a normal function of the ARH Adaptor protein?

ARH is an adaptor protein required for efficient endocytosis of low density lipoprotein (LDL) receptors (LDLRs) in selected tissues. Individuals lacking ARH (ARH-/-) have severe hypercholesterolemia due to impaired hepatic clearance of LDL.

What does low density lipoprotein receptor do?

Low-density lipoprotein receptors sit on the outer surface of many types of cells, where they pick up LDLs circulating in the bloodstream and transport them into the cell. Once inside the cell, the LDL is broken down to release cholesterol. The cholesterol is then used by the cell, stored, or removed from the body.

What type of protein is LDL receptor?

mosaic protein
The low-density lipoprotein (LDL) receptor (LDL-R) is a mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) that mediates the endocytosis of cholesterol-rich LDL.

What is the PCSK9 gene?

The PCSK9 gene provides instructions for making a protein that helps regulate the amount of cholesterol in the bloodstream. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals.

Which is low density lipoprotein receptor adaptor protein 1?

low density lipoprotein receptor adapter protein 1, LDL receptor adaptor protein, autosomal recessive hypercholesterolemia protein homolog GeneRIFs: Gene References Into Functions cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide.

What kind of protein is the LDLRAP1 protein?

26119 – Gene ResultLDLRAP1 low density lipoprotein receptor adaptor protein 1 [ (human)] The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor.

Which is an adaptor of the LDL-LDLR complex?

ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.

What is the function of PTB in LDL receptor?

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTB) domain. The PTB domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia.