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 →
MVK gene
URL of this page: https://medlineplus.gov/genetics/gene/mvk/

MVK gene

mevalonate kinase

Normal Function

The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme converts a substance called mevalonic acid into mevalonate-5-phosphate. This conversion is the second step in a pathway that produces cholesterol. The cholesterol is later converted into steroid hormones and bile acids. Steroid hormones are needed for normal development and reproduction, and bile acids are used to digest fats. Mevalonate kinase also helps to produce other substances that are necessary for certain cellular functions, such as cell growth, cell maturation (differentiation), formation of the cell's structural framework (the cytoskeleton), gene activity (expression), and protein production and modification.

Health Conditions Related to Genetic Changes

Mevalonate kinase deficiency

At least 80 mutations in the MVK gene have been found to cause mevalonate kinase deficiency. There are two types of mevalonate kinase deficiency, which are differentiated by the severity of the signs and symptoms. The less severe of the two types is called hyperimmunoglobulinemia D syndrome (HIDS) and the more severe type is called mevalonic aciduria (MVA). Most of the MVK gene mutations that cause mevalonate kinase deficiency lead to changes in single protein building blocks (amino acids) in the mevalonate kinase enzyme. One mutation that replaces the amino acid valine with the amino acid isoleucine at position 337 in the enzyme (written as Val337Ile or V337I) is found in approximately 80 percent of people with HIDS. The V337I mutation has never been found in people with MVA.

Most MVK gene mutations lead to the production of a mevalonate kinase enzyme that is unstable and folded into an incorrect 3-dimensional shape, leading to a reduction of mevalonate kinase enzyme activity. The severity of the enzyme shortage (deficiency) determines the severity of the condition. People who have approximately 1 to 20 percent of normal mevalonate kinase activity typically develop HIDS. Individuals who have less than 1 percent of normal enzyme activity usually develop MVA. Despite this shortage of mevalonate kinase activity, people with mevalonate kinase deficiency typically have normal production of cholesterol, steroid hormones, and bile acids.

Some researchers believe the features may be due to a buildup of mevalonic acid, the substance that mevalonate kinase normally acts on. Other researchers think that a shortage of the substances produced from mevalonic acid, such as those substances necessary for certain cellular functions, causes the fever episodes and other features of this condition. The exact mechanism that causes inflammatory reactions such as fevers, skin rashes, elevated immune system proteins, and many other features of mevalonate kinase deficiency is unclear.

More About This Health Condition

Other Names for This Gene

  • KIME_HUMAN
  • LH receptor mRNA-binding protein
  • LRBP
  • mevalonate kinase 1
  • MK
  • MVLK

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of MVK From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • MEVALONATE KINASE; MVK

Gene and Variant Databases

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

References

  • Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84. doi: 10.1016/j.clinbiochem.2007.03.016. Epub 2007 Mar 31. Citation on PubMed
  • Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. Citation on PubMed or Free article on PubMed Central
  • Mandey SH, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. Citation on PubMed
DNA helix

Genomic Location

The MVK gene is found on chromosome 12.

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 April 1, 2011
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