Reviewed October 2009
What is the official name of the VLDLR gene?
The official name of this gene is “very low density lipoprotein receptor.”
VLDLR is the gene's official symbol. The VLDLR gene is also known by other names, listed below.
What is the normal function of the VLDLR gene?
The VLDLR gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. This protein is active in many different organs and tissues, including the heart, muscles used for movement (skeletal muscles), fatty (adipose) tissue, and the kidneys. The VLDL receptor appears to play a particularly important role in the developing brain.
The VLDL receptor works together with a protein called reelin. Reelin fits into the VLDL receptor like a key in a lock, which triggers a series of chemical reactions within the cell. During early brain development, the reelin signaling pathway helps to guide the movement of immature nerve cells (neuroblasts) to their appropriate locations in the brain.
How are changes in the VLDLR gene related to health conditions?
- VLDLR-associated cerebellar hypoplasia - caused by mutations in the VLDLR gene
At least six mutations in the VLDLR gene have been found to cause VLDLR-associated cerebellar hypoplasia. These mutations prevent cells from producing any functional VLDL receptor protein. Without this protein, neuroblasts cannot reach the parts of the brain where they are needed. These problems with brain development predominantly affect the cerebellum, which is the part of the brain that coordinates movement. People with VLDLR-associated cerebellar hypoplasia have an unusually small and underdeveloped cerebellum, which leads to problems with balance and coordination (ataxia) and impaired speech. Other regions of the brain are also affected, resulting in intellectual disability and the other major features of this condition.
Where is the VLDLR gene located?
Cytogenetic Location: 9p24
Molecular Location on chromosome 9: base pairs 2,621,678 to 2,656,099
The VLDLR gene is located on the short (p) arm of chromosome 9 at position 24.
More precisely, the VLDLR gene is located from base pair 2,621,678 to base pair 2,656,099 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about VLDLR?
You and your healthcare professional may find the following resources about VLDLR helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28VLDLR%5BTIAB%5D%29%20OR%20%28very%20low%20density%20lipoprotein%20receptor%5BTIAB%5D%29%20OR%20%28VLDL%20receptor%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/192977)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_VLDLR.html)
- HGNC Gene Family: Low density lipoprotein receptors (http://www.genenames.org/genefamilies/LDLR)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=12698)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7436)
What other names do people use for the VLDLR gene or gene products?
- VLDL receptor
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding VLDLR?
very low density lipoprotein ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub 2009 Mar 30. (http://www.ncbi.nlm.nih.gov/pubmed/19332571?dopt=Abstract)
- Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 2005 Sep;77(3):477-83. Epub 2005 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/16080122?dopt=Abstract)
- Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. 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. 2008 Feb;16(2):270-3. Epub 2007 Nov 28. (http://www.ncbi.nlm.nih.gov/pubmed/18043714?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7436)
- Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7. (http://www.ncbi.nlm.nih.gov/pubmed/18326629?dopt=Abstract)
- Takahashi S, Sakai J, Fujino T, Hattori H, Zenimaru Y, Suzuki J, Miyamori I, Yamamoto TT. The very low-density lipoprotein (VLDL) receptor: characterization and functions as a peripheral lipoprotein receptor. J Atheroscler Thromb. 2004;11(4):200-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15356379?dopt=Abstract)
- Tissir F, Goffinet AM. Reelin and brain development. Nat Rev Neurosci. 2003 Jun;4(6):496-505. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12778121?dopt=Abstract)
- Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S. Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26. (http://www.ncbi.nlm.nih.gov/pubmed/18364738?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.