人 PMVK 抗体对
01AB01555
Phosphomevalonate kinase (PMVK) is a peroxisomal and cytosolic enzyme encoded by the PMVK gene on chromosome 1 that catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to mevalonate 5-diphosphate, representing the fifth and rate-limiting step in the mevalonate pathway of isoprenoid biosynthesis. PMVK belongs to the GHMP family of ATP-dependent enzymes and is highly expressed in metabolically active tissues including the heart, liver, skeletal muscle, kidney, and pancreas, with lower expression in the brain, placenta, and lung. This enzyme plays a critical role in cholesterol and steroid biosynthesis by facilitating the production of isopentenyl diphosphate and other polyisoprenoid metabolites. Biallelic pathogenic variants in PMVK cause PMVK deficiency, a systemic autoinflammatory disease characterized by recurrent fevers, arthritis, and cytopenia, with the first confirmed patient harboring a homozygous missense variant (p.Val131Ala) that resulted in virtually complete absence of PMVK protein and abolished enzymatic activity.
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技术参数
- 靶点基因名
- PMVK
- 基因别名
- PMKI
- 蛋白别名
- phosphomevalonate kinase; PMVK
- UniProt
- Q15126
- 物种
- Human
产品详情
- 靶点名称
- PMVK
- 蛋白名称
- phosphomevalonate kinase
- 蛋白别名
- Phosphomevalonate kinase; PMKase; hPMK
- 靶点基因名
- PMVK
- 基因别名
- PMKI
- UniProt
- Q15126
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Phosphomevalonate kinase (PMVK) is a peroxisomal and cytosolic enzyme encoded by the PMVK gene on chromosome 1 that catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to mevalonate 5-diphosphate, representing the fifth and rate-limiting step in the mevalonate pathway of isoprenoid biosynthesis. PMVK belongs to the GHMP family of ATP-dependent enzymes and is highly expressed in metabolically active tissues including the heart, liver, skeletal muscle, kidney, and pancreas, with lower expression in the brain, placenta, and lung. This enzyme plays a critical role in cholesterol and steroid biosynthesis by facilitating the production of isopentenyl diphosphate and other polyisoprenoid metabolites. Biallelic pathogenic variants in PMVK cause PMVK deficiency, a systemic autoinflammatory disease characterized by recurrent fevers, arthritis, and cytopenia, with the first confirmed patient harboring a homozygous missense variant (p.Val131Ala) that resulted in virtually complete absence of PMVK protein and abolished enzymatic activity.