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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.
Read more about gene names and symbols on the About page.
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?
Where is the MVK gene located?
Cytogenetic Location: 12q24
Molecular Location on chromosome 12: base pairs 110,011,499 to 110,035,070
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 110,011,499 to base pair 110,035,070 on chromosome 12.
See How do geneticists indicate the location of a gene? 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?
See How are genetic conditions and genes named? in the Handbook.
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 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
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.