VLDL receptor
Encyclopedia
The very-low-density-lipoprotein receptor (VLDL-R) is a lipoprotein
receptor that shows considerable similarity to the low-density-lipoprotein receptor
. This receptor has been suggested to be important for the metabolism of apoprotein-E-containing triacylglycerol-rich lipoproteins, such as very-low-density-lipoprotein
(VLDL), beta-migrating VLDL and intermediate-density lipoprotein. It is also one of the receptors of reelin
, an extracellular matrix protein which regulates the processes of neuronal migration and synaptic plasticity
. In humans, the VLDL-R is encoded by the VLDLR gene
.
(VLDLRCH) after a 2005 study. It is associated with parental consanguinity and found in secluded communities such as the Hutterite
s. VLDLRCH is one of the two known genetic disorders caused by a disruption of reelin
signaling pathway, along with Norman-Roberts syndrome
.
Lipoprotein
A lipoprotein is a biochemical assembly that contains both proteins and lipids water-bound to the proteins. Many enzymes, transporters, structural proteins, antigens, adhesins, and toxins are lipoproteins...
receptor that shows considerable similarity to the low-density-lipoprotein receptor
LDL receptor
The Low-Density Lipoprotein Receptor is a mosaic protein of ~840 amino acids 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...
. This receptor has been suggested to be important for the metabolism of apoprotein-E-containing triacylglycerol-rich lipoproteins, such as very-low-density-lipoprotein
Very low density lipoprotein
Very-low-density lipoprotein is a type of lipoprotein made by the liver. VLDL is one of the five major groups of lipoproteins that enable fats and cholesterol to move within the water-based solution of the bloodstream...
(VLDL), beta-migrating VLDL and intermediate-density lipoprotein. It is also one of the receptors of reelin
Reelin
Reelin is a large secreted extracellular matrix protein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this important role in early development, reelin continues to work in the adult brain. It modulates the...
, an extracellular matrix protein which regulates the processes of neuronal migration and synaptic plasticity
Synaptic plasticity
In neuroscience, synaptic plasticity is the ability of the connection, or synapse, between two neurons to change in strength in response to either use or disuse of transmission over synaptic pathways. Plastic change also results from the alteration of the number of receptors located on a synapse...
. In humans, the VLDL-R is encoded by the VLDLR gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Tissue distribution
In rabbits, the mRNA for the VLDLR was found to be most abundant in heart, skeletal muscle, and adipose tissue, but was not detectable in the liver. Human mRNA studies showed a very similar pattern of distribution. Hence, it has been suggested that the VLDLR might play an important role in the fatty acid metabolism of non-hepatic tissues.Clinical signifance
A rare neurological disorder first described in the 1970s under the name "disequilibrium syndrome" is now considered to be caused by the disruption of VLDLR gene. The disorder was renamed VLDLR-associated cerebellar hypoplasiaVLDLR-associated cerebellar hypoplasia
VLDLR-associated cerebellar hypoplasia is a rare autosomal recessive condition caused by a disruption of the VLDLR gene...
(VLDLRCH) after a 2005 study. It is associated with parental consanguinity and found in secluded communities such as the Hutterite
Hutterite
Hutterites are a communal branch of Anabaptists who, like the Amish and Mennonites, trace their roots to the Radical Reformation of the 16th century. Since the death of their founder Jakob Hutter in 1536, the beliefs of the Hutterites, especially living in a community of goods and absolute...
s. VLDLRCH is one of the two known genetic disorders caused by a disruption of reelin
Reelin
Reelin is a large secreted extracellular matrix protein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this important role in early development, reelin continues to work in the adult brain. It modulates the...
signaling pathway, along with Norman-Roberts syndrome
Norman-Roberts syndrome
Lissencephaly 2, more commonly called Norman-Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene. A small number of cases have been described. The syndrome was first reported by M. Norman and M. Roberts et al. in 1976.Lack of reelin prevents normal layering of...
.