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DHCR24

DHCR24

Reviewed August 2014

What is the official name of the DHCR24 gene?

The official name of this gene is “24-dehydrocholesterol reductase.”

DHCR24 is the gene's official symbol. The DHCR24 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 DHCR24 gene?

The DHCR24 gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase. This enzyme is involved in multiple pathways that produce cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It can also be produced in various tissues in the body. For example, the brain cannot access the cholesterol that comes from food, so brain cells must produce their own. In one pathway, 24-dehydrocholesterol reductase is involved in the final step of cholesterol production (synthesis), converting the fat desmosterol into cholesterol. In a different pathway, 24-dehydrocholesterol reductase converts the fat lanosterol into another fat called 24,25-dihydrolanosterol. The end product of both of these pathways is cholesterol.

Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. Cholesterol is an important component of cell membranes and the fatty protective covering that insulates nerves (myelin). Cholesterol also attaches (binds) to certain proteins to turn on (activate) the hedgehog signaling pathway, which is critical for normal development of many parts of the body before birth. Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.

How are changes in the DHCR24 gene related to health conditions?

desmosterolosis - caused by mutations in the DHCR24 gene

At least seven mutations in the DHCR24 gene have been found to cause desmosterolosis. Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. The mutations that cause this condition change single protein building blocks (amino acids) in the 24-dehydrocholesterol reductase enzyme. As a result, enzyme activity is reduced and cholesterol production is decreased. Because the brain relies solely on cellular production for cholesterol, it is most severely affected. Without adequate cholesterol, cell membranes are not formed properly and nerve cells are not protected by myelin, leading to the death of these cells. In addition, a decrease in cholesterol production has more severe effects before birth than during other periods of development because of the rapid increase in cell number that takes place. Disruption of normal cell formation before birth likely accounts for the additional developmental abnormalities of desmosterolosis.

Where is the DHCR24 gene located?

Cytogenetic Location: 1p32.3

Molecular Location on chromosome 1: base pairs 54,849,626 to 54,887,247

The DHCR24 gene is located on the short (p) arm of chromosome 1 at position 32.3.

The DHCR24 gene is located on the short (p) arm of chromosome 1 at position 32.3.

More precisely, the DHCR24 gene is located from base pair 54,849,626 to base pair 54,887,247 on chromosome 1.

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

Where can I find additional information about DHCR24?

You and your healthcare professional may find the following resources about DHCR24 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 DHCR24 gene or gene products?

  • 3 beta-hydroxysterol delta 24-reductase
  • 3-beta-hydroxysterol delta-24-reductase
  • DCE
  • delta(24)-sterol reductase
  • delta(24)-sterol reductase precursor
  • desmosterol-to-cholesterol enzyme
  • diminuto/dwarf1 homolog
  • KIAA0018
  • Nbla03646
  • SELADIN1
  • seladin 1
  • seladin-1
  • selective AD indicator 1

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 DHCR24?

acids ; cell ; cholesterol ; developmental delay ; digestive ; egg ; embryonic ; enzyme ; gene ; neurological ; precursor ; protein ; synthesis

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

See also Understanding Medical Terminology.

References (5 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: August 2014
Published: August 24, 2015