MVK Antibody

Mevalonate kinase is involved in several important biological processes, including:

• Steroid metabolic process
• Sterol biosynthetic process
• Lipid metabolism
• Cholesterol metabolic process
• Isoprenoid biosynthetic process
• Negative regulation of inflammatory response

The MVK gene is located on chromosome 12 in humans and on chromosome 5 in mice . Mutations in the MVK gene can lead to mevalonate kinase deficiency (MKD), which is associated with diseases such as mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) .

Monoclonal antibodies against human mevalonate kinase, produced in mice, are used in various research applications. These antibodies are valuable tools for studying the enzyme’s function, regulation, and role in disease. They can be used in techniques such as Western blotting, immunohistochemistry, and enzyme-linked immunosorbent assays (ELISA) .

Mevalonate kinase deficiency (MKD) is a rare genetic disorder characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia, and recurrent febrile crises . The deficiency results from mutations in the MVK gene, leading to reduced enzyme activity and accumulation of mevalonic acid .

Research on mevalonate kinase and its pathway has significant implications for understanding and treating various diseases, including metabolic disorders and inflammatory conditions. The enzyme’s role in cholesterol biosynthesis also makes it a potential target for therapeutic interventions aimed at regulating cholesterol levels and treating related diseases .