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Genetics Home Reference: your guide to understanding genetic conditions
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MVK

Reviewed April 2011

What is the official name of the MVK gene?

The official name of this gene is “mevalonate kinase.”

MVK is the gene's official symbol. The MVK gene is also known by other names, listed below.

What is the normal function of the MVK gene?

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.

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

mevalonate kinase deficiency - caused by mutations in the MVK gene

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.

Where is the MVK gene located?

Cytogenetic Location: 12q24

Molecular Location on chromosome 12: base pairs 109,573,694 to 109,597,265

The MVK gene is located on the long (q) arm of chromosome 12 at position 24.

The MVK gene is located on the long (q) arm of chromosome 12 at position 24.

More precisely, the MVK gene is located from base pair 109,573,694 to base pair 109,597,265 on chromosome 12.

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 MVK?

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

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

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 MVK?

acids ; aciduria ; amino acid ; bile ; cell ; cholesterol ; cytoskeleton ; deficiency ; differentiation ; enzyme ; fever ; gene ; immune system ; isoleucine ; kinase ; mRNA ; mutation ; phosphate ; protein ; receptor ; reproduction ; syndrome ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17467679?dopt=Abstract)
  • Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16722536?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16835861?dopt=Abstract)
  • OMIM: MEVALONATE KINASE (http://omim.org/entry/251170)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4598)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2011
Published: December 16, 2014