Low Density Lipoprotein Receptor (LDLR)

FH; FHC; Familial Hypercholesterolemia

SPN	V804
HGNC	6547
MGI	96765
PubMed	11668627
RGD	2998
UniProt	P01130
Wiki	LDL_receptor

The Low-Density Lipoprotein (LDL) Receptor is a mosaic protein that mediates the endocytosis of cholesterol-rich LDL. It is a cell-surface receptor that recognizes the apoprotein B100 which is embedded in the phospholipid outer layer of LDL particles. The receptor also recognizes the apoE protein found in chylomicron remnants and VLDL remnants (IDL). Brown and Goldstein won a Nobel Prize for their identification of the Low Density Lipoprotein (LDL) receptor in 1985 whilst they were studying familial hypercholesterolemia.

The LDL receptor can be described as a chimeric protein. It is made up of a number of functionally distinct domains that can function independently of each other.

Reference

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Hum. Mutat. 12:365-365(1998)

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Erratum
Nat. Genet. 23:373-373(1999)

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"A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland."
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"Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia."
Atherosclerosis 233:206-210(2014) [PubMed] [Europe PMC] [Abstract]

"Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats."
Atherosclerosis 238:304-312(2015) [PubMed] [Europe PMC] [Abstract]

"Functional characterization and classification of frequent low-density lipoprotein receptor variants."
Hum. Mutat. 36:129-141(2015) [PubMed] [Europe PMC] [Abstract]