抗人 CDS2 抗体对
01AB02953
CDP-diacylglycerol synthase 2 (CDS2) is an integral membrane enzyme essential for phosphoinositide and mitochondrial phospholipid metabolism. Localizing to the endoplasmic reticulum and mitochondrial inner membrane, it catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, a critical intermediate for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin. CDS2 exhibits substrate specificity for arachidonyl-containing species and supports lipid droplet maturation, linking lipid synthesis to energy homeostasis. Dysfunction of CDS2 disrupts phospholipid availability in neural and muscular tissues. Pathogenic variants are associated with a syndrome comprising congenital muscular dystrophy, cataracts, and intellectual disability, as well as bilateral temporo-occipital polymicrogyria, highlighting its necessity for neuromuscular and cortical development.
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技术参数
- 靶点基因名
- CDS2
- 蛋白别名
- CDP-diacylglycerol synthase 2; CDS2
- UniProt
- O95674
- 物种
- Human
产品详情
- 靶点名称
- CDS2
- 蛋白名称
- CDP-diacylglycerol synthase 2
- 蛋白别名
- Phosphatidate cytidylyltransferase 2; CDP-DAG synthase 2; CDP-DG synthase 2; CDP-diacylglycerol synthase 2; CDS 2; CDP-diglyceride pyrophosphorylase 2; CDP-diglyceride synthase 2; CTP:phosphatidate cytidylyltransferase 2
- 靶点基因名
- CDS2
- UniProt
- O95674
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
CDP-diacylglycerol synthase 2 (CDS2) is an integral membrane enzyme essential for phosphoinositide and mitochondrial phospholipid metabolism. Localizing to the endoplasmic reticulum and mitochondrial inner membrane, it catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, a critical intermediate for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin. CDS2 exhibits substrate specificity for arachidonyl-containing species and supports lipid droplet maturation, linking lipid synthesis to energy homeostasis. Dysfunction of CDS2 disrupts phospholipid availability in neural and muscular tissues. Pathogenic variants are associated with a syndrome comprising congenital muscular dystrophy, cataracts, and intellectual disability, as well as bilateral temporo-occipital polymicrogyria, highlighting its necessity for neuromuscular and cortical development.