VLDL receptor
| very low density lipoprotein receptor | |
|---|---|
| Identifiers | |
| Symbol | VLDLR |
| Entrez | 7436 |
| HUGO | 12698 |
| OMIM | 192977 |
| RefSeq | NM_003383 |
| UniProt | P98155 |
| Other data | |
| Locus | Chr. 9 p24 |
The very-low-density-lipoprotein receptor (VLDLR) 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.
Distribution in the organism
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.
Role in pathology
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.[1] The disorder was renamed VLDLR-associated cerebellar hypoplasia (VLDLRCH) after a 2005 study.[2][3] It is associated with parental consanguinity and found in secluded communities such as the Hutterites. VLDLRCH is one of the two known genetic disorders caused by a disruption of reelin signaling pathway, along with Norman-Roberts syndrome.
References
- ↑ Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW (2007). "Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome". Eur J Hum Genet. doi:10.1038/sj.ejhg.5201967. PMID 18043714.
- ↑ Boycott KM, Flavelle S, Bureau A; et al. (2005). "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification". Am. J. Hum. Genet. 77 (3): 477–83. doi:10.1086/444400. PMID 16080122.free full text
- ↑ CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH - from OMIM.
Sources
- Oka K, Ishimura-Oka K, Chu MJ, Sullivan M, Krushkal J, Li WH, Chan L. (1994) Eur J Biochem. Sep 15;224(3):975-82 Mouse very-low-density-lipoprotein receptor (VLDLR) cDNA cloning, tissue-specific expression and evolutionary relationship with the low-density-lipoprotein receptor. PMID 7925422
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