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MVK gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MVK gene

The MVK gene provides instructions for making the mevalonate kinase enzyme, which is essential for cholesterol production and various cellular functions.

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:

  • Hyperimmunoglobulinemia D syndrome (HIDS): The less severe type.
  • Mevalonic aciduria (MVA): The more severe type.

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 enzyme activity. The severity of the enzyme shortage 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. The exact mechanism that causes inflammatory reactions such as fevers, skin rashes, and elevated immune system proteins is unclear.

Retinitis pigmentosa

MedlinePlus Genetics provides information about Retinitis pigmentosa.

Other Names for This Gene

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

Frequently Asked Questions

Recurrent fevers lasting 3–5 days, abdominal pain, joint swelling, rash, and fatigue are typical. Seek urgent care if fevers exceed 38.5 °C, if pain is severe or persistent, or if you develop signs of dehydration or severe infection.
Infections, vaccinations, emotional or physical stress, and even certain foods can precipitate flares. Managing stress through relaxation techniques, ensuring timely vaccinations, and maintaining good hygiene can reduce flare frequency.
blood sample for sequencing of the MVK gene is standard. Prior to testing, discuss family history, possible pregnancy plans, and the implications of a positive result with a genetic counselor. No special preparation is usually required, but avoid large meals if the test is scheduled for the morning.
NSAIDs or colchicine can reduce inflammation during flares. Low‑dose steroids may be used for severe episodes. A diet low in purines and simple sugars can help, and staying well‑hydrated supports overall health. Regular monitoring of inflammatory markers and periodic evaluation by a rheumatologist or immunologist are recommended.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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