SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
DHCR24 gene
URL of this page: https://medlineplus.gov/genetics/gene/dhcr24/

DHCR24 gene

24-dehydrocholesterol reductase

Normal Function

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.

Health Conditions Related to Genetic Changes

Desmosterolosis

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.

More About This Health Condition

Other Names for This Gene

  • 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
  • seladin 1
  • seladin-1
  • SELADIN1
  • selective AD indicator 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of DHCR24 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • 24-DEHYDROCHOLESTEROL REDUCTASE; DHCR24

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF. Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. Orphanet J Rare Dis. 2014 Jun 25;9:94. doi: 10.1186/1750-1172-9-94. Citation on PubMed or Free article on PubMed Central
  • Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22. Citation on PubMed or Free article on PubMed Central
  • Zerenturk EJ, Sharpe LJ, Ikonen E, Brown AJ. Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis. Prog Lipid Res. 2013 Oct;52(4):666-80. doi: 10.1016/j.plipres.2013.09.002. Epub 2013 Oct 2. Citation on PubMed
DNA helix

Genomic Location

The DHCR24 gene is found on chromosome 1.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated August 1, 2014
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP