抗人 MVK 抗体对
01AB03341
Mevalonate kinase (MVK) is an essential enzyme in the mevalonate pathway, which is crucial for cholesterol synthesis and the production of isoprenoids. Specifically, MVK catalyzes the conversion of mevalonic acid to 5-phosphomevalonate, marking the second step in this metabolic pathway. The enzyme is ubiquitously expressed, with significant levels found in leukocytes and skin keratinocytes. MVK plays a vital role in various cellular functions, including cell growth, differentiation, and the maintenance of the cytoskeleton. Mutations in the MVK can lead to mevalonate kinase deficiency, resulting in conditions such as hyperimmunoglobulinemia D syndrome (HIDS) and mevalonic aciduria (MVA). These disorders are characterized by recurrent fever episodes, developmental delays, and other systemic symptoms due to impaired enzyme activity and subsequent accumulation of mevalonic acid.
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技术参数
- 靶点基因名
- MVK
- 蛋白别名
- mevalonate kinase; MVK
- UniProt
- Q03426
- 物种
- Human
产品详情
- 靶点名称
- MVK
- 蛋白名称
- mevalonate kinase
- 蛋白别名
- Mevalonate kinase; MK
- 靶点基因名
- MVK
- UniProt
- Q03426
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Mevalonate kinase (MVK) is an essential enzyme in the mevalonate pathway, which is crucial for cholesterol synthesis and the production of isoprenoids. Specifically, MVK catalyzes the conversion of mevalonic acid to 5-phosphomevalonate, marking the second step in this metabolic pathway. The enzyme is ubiquitously expressed, with significant levels found in leukocytes and skin keratinocytes. MVK plays a vital role in various cellular functions, including cell growth, differentiation, and the maintenance of the cytoskeleton. Mutations in the MVK can lead to mevalonate kinase deficiency, resulting in conditions such as hyperimmunoglobulinemia D syndrome (HIDS) and mevalonic aciduria (MVA). These disorders are characterized by recurrent fever episodes, developmental delays, and other systemic symptoms due to impaired enzyme activity and subsequent accumulation of mevalonic acid.