人 HSD17B4 抗体对
01AB02479
Hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein, is a peroxisomal multifunctional enzyme essential for the beta-oxidation of fatty acids. It contains distinct hydratase and dehydrogenase domains that catalyze two consecutive steps in the breakdown of very long-chain fatty acids, branched-chain fatty acids, and bile acid intermediates. Specifically, it hydrates trans-2-enoyl-CoA to (3R)-3-hydroxyacyl-CoA and subsequently dehydrogenates it to 3-ketoacyl-CoA. Pathogenic variants in HSD17B4 cause autosomal recessive D-bifunctional protein deficiency, a severe peroxisomal disorder. This condition is characterized by neonatal-onset hypotonia, seizures, and progressive leukodystrophy resulting from the toxic accumulation of very long-chain fatty acids, underscoring the enzyme's critical role in lipid metabolism and neurological health.
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技术参数
- 靶点基因名
- HSD17B4
- 基因别名
- EDH17B4; SDR8C1
- 蛋白别名
- hydroxysteroid 17-beta dehydrogenase 4; HSD17B4
- UniProt
- P51659
- 物种
- Human
产品详情
- 靶点名称
- HSD17B4
- 蛋白名称
- hydroxysteroid 17-beta dehydrogenase 4
- 蛋白别名
- Peroxisomal multifunctional enzyme type 2; MFE-2; 17-beta-hydroxysteroid dehydrogenase 4; 17-beta-HSD 4; D-bifunctional protein; DBP; Multifunctional protein 2; MFP-2; Short chain dehydrogenase/reductase family 8C member 1) [Cleaved into:; 3R)-hydroxyacyl-CoA dehydrogenase; Enoyl-CoA hydratase 2; 3-alpha; 7-alpha; 12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase]
- 靶点基因名
- HSD17B4
- 基因别名
- EDH17B4; SDR8C1
- UniProt
- P51659
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein, is a peroxisomal multifunctional enzyme essential for the beta-oxidation of fatty acids. It contains distinct hydratase and dehydrogenase domains that catalyze two consecutive steps in the breakdown of very long-chain fatty acids, branched-chain fatty acids, and bile acid intermediates. Specifically, it hydrates trans-2-enoyl-CoA to (3R)-3-hydroxyacyl-CoA and subsequently dehydrogenates it to 3-ketoacyl-CoA. Pathogenic variants in HSD17B4 cause autosomal recessive D-bifunctional protein deficiency, a severe peroxisomal disorder. This condition is characterized by neonatal-onset hypotonia, seizures, and progressive leukodystrophy resulting from the toxic accumulation of very long-chain fatty acids, underscoring the enzyme's critical role in lipid metabolism and neurological health.