抗人 ETNK2 抗体对
01AB02410
Ethanolamine kinase 2 (ETNK2) is a cytosolic enzyme that catalyzes the first, ATP-dependent step of the CDP-ethanolamine (Kennedy) pathway for phosphatidylethanolamine biosynthesis. It specifically phosphorylates ethanolamine and lacks choline kinase activity. ETNK2 is expressed in multiple tissues, with high levels observed in the kidney tubules and seminiferous ducts, where it contributes to membrane biogenesis and cellular signaling through its role in glycerophospholipid metabolism. Clinically, ETNK2 has been associated with spondylometaphyseal dysplasia with cone-rod dystrophy and autosomal recessive spastic paraplegia 81. These associations suggest that ETNK2 is essential for proper skeletal development and the maintenance of neuro-ocular function through its regulation of lipid metabolic pathways.
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技术参数
- 靶点基因名
- ETNK2
- 基因别名
- EKI2
- 蛋白别名
- ethanolamine kinase 2; ETNK2
- UniProt
- Q9NVF9
- 物种
- Human
产品详情
- 靶点名称
- ETNK2
- 蛋白名称
- ethanolamine kinase 2
- 蛋白别名
- Ethanolamine kinase 2; EKI 2; Ethanolamine kinase-like protein
- 靶点基因名
- ETNK2
- 基因别名
- EKI2
- UniProt
- Q9NVF9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Ethanolamine kinase 2 (ETNK2) is a cytosolic enzyme that catalyzes the first, ATP-dependent step of the CDP-ethanolamine (Kennedy) pathway for phosphatidylethanolamine biosynthesis. It specifically phosphorylates ethanolamine and lacks choline kinase activity. ETNK2 is expressed in multiple tissues, with high levels observed in the kidney tubules and seminiferous ducts, where it contributes to membrane biogenesis and cellular signaling through its role in glycerophospholipid metabolism. Clinically, ETNK2 has been associated with spondylometaphyseal dysplasia with cone-rod dystrophy and autosomal recessive spastic paraplegia 81. These associations suggest that ETNK2 is essential for proper skeletal development and the maintenance of neuro-ocular function through its regulation of lipid metabolic pathways.