VLDLR Gene: Very Low Density Lipoprotein Receptor
A key player in lipid metabolism, neuronal development, and associated with cerebellar hypoplasia and atherosclerosis risk.
Gene Information Card
| Symbol | VLDLR |
|---|---|
| Full Name | Very Low Density Lipoprotein Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.2 |
| NCBI Gene ID | 7436 ncbi.nlm.nih.gov/gene/7436 |
| Ensembl ID | ENSG00000147852 |
| UniProt ID | P98155 |
| OMIM ID | 192977 |
| HGNC ID | 12698 |
| Aliases | VLDL-R, VLDLRCH |
Description
The VLDLR gene encodes the very low density lipoprotein receptor, a member of the LDL receptor family. This receptor mediates the cellular uptake of VLDL and other lipoproteins, playing a critical role in lipid metabolism. Additionally, VLDLR functions as a receptor for Reelin, a key signaling molecule in neuronal migration during brain development. Mutations in VLDLR cause a rare autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| VLDLR-associated cerebellar hypoplasia (VLDLRCH) | Loss-of-function mutations impair Reelin signaling, disrupting neuronal migration and cerebellar development. | OMIM #224050; PMID: 15805155 |
| Atherosclerosis | VLDLR mediates uptake of VLDL and remnant lipoproteins by macrophages, contributing to foam cell formation and plaque development. | PMID: 15210943; NCBI GeneRIF |
| Alzheimer's disease | VLDLR polymorphisms may influence amyloid-beta metabolism and risk, though evidence is mixed. | ClinVar; PMID: 17576681 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 11.2 | Medium |
| Adipose tissue | 8.5 | Medium |
| Brain (cerebellum) | 6.3 | Low |
| Liver | 2.1 | Low |
| Skeletal muscle | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocyte cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| THP-1 | 6.2 | Monocyte/macrophage cell line |
| MCF7 | 3.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1321C>T (p.Arg441*) | Nonsense | Rare | Loss of function; associated with VLDLRCH |
| c.2332G>A (p.Gly778Arg) | Missense | Rare | Impaired receptor trafficking; VLDLRCH |
| c.1120_1121del (p.Leu374Valfs*12) | Frameshift | Rare | Loss of function; VLDLRCH |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt Reelin binding or receptor trafficking lead to VLDLR-associated cerebellar hypoplasia.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported; VLDLRCH is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Reelin signaling pathway (Reactome R-HSA-8862803)
• Lipoprotein metabolism (Reactome R-HSA-174824)
• Clathrin-mediated endocytosis (Reactome R-HSA-8856825)
Protein Summary
The VLDLR protein (P98155) is a 873-amino acid transmembrane receptor with ligand-binding repeats, EGF-like domains, and a cytoplasmic NPXY motif. It binds apolipoprotein E (ApoE)-containing lipoproteins and Reelin. Upon ligand binding, it undergoes clathrin-mediated endocytosis, delivering lipids to cells. In the brain, VLDLR together with ApoER2 mediates Reelin signaling, essential for proper layering of the cerebral cortex and cerebellum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VLDLR Knockout HEK293 Cell Line | EDJ-KQ12141 | Human | 7436 | Details Get a Quote |
| VLDLR Knockout A-549 Cell Line | EDJ-KQ40831 | Human | 7436 | Details Get a Quote |
| VLDLR Knockout HCT 116 Cell Line | EDJ-KQ40832 | Human | 7436 | Details Get a Quote |
| VLDLR Knockout HeLa Cell Line | EDJ-KQ40833 | Human | 7436 | Details Get a Quote |
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