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VLDLR

VLDLR

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.

Read more about gene names and symbols on the About page.

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 2,621,773 to 2,654,484

The VLDLR gene is located on the short (p) arm of chromosome 9 at position 24.

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 2,621,773 to base pair 2,654,484 on chromosome 9.

See How do geneticists indicate the location of a gene? 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.

What other names do people use for the VLDLR gene or gene products?

  • CARMQ1
  • CHRMQ1
  • FLJ35024
  • VLDLRCH
  • VLDL receptor
  • VLDLR_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding VLDLR?

ataxia ; cell ; cerebellum ; disability ; gene ; hypoplasia ; lipoprotein ; neuroblasts ; protein ; receptor ; tissue ; very low density lipoprotein ; VLDL

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: October 2009
Published: August 18, 2014