2024年12月24日 · ECHS1 (Enoyl-CoA Hydratase, Short Chain 1) is a Protein Coding gene. Diseases associated with ECHS1 include Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency and Lipid Metabolism Disorder. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Leucine, isoleucine and valine metabolism.

Enoyl Coenzyme A hydratase, short chain, 1, mitochondrial, also known as ECHS1, is a human gene. [5] The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs.

2019年6月20日 · Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms.

2017年9月6日 · Herein, we report that enoyl-CoA hydratase-1 (ECHS1), the enzyme involved in the oxidation of fatty acids (FAs) and branched-chain amino acids (BCAAs), senses...

短链烯酰辅酶 A 水合酶 (ECHS1) 是一种 线粒体基质酶，可水合酰基辅酶A的双键，它参与线粒体中的氨基酸（缬氨酸、鸟氨酸、蛋氨酸、异亮氨酸、苏氨酸、赖氨酸、色氨酸）和脂肪酸分解代谢，其缺陷会导致 Leigh 综合征 或运动诱发的肌张力障碍。 其主要病因是 缬氨酸 中间代谢物的积累被认为是造成细胞毒性的原因，ECHS1缺陷的患者通常从新生儿期或婴儿早期开始出现发育迟缓和神经功能恶化，表现为伴有 基底神经节病变 和乳酸血症的Leigh综合征的特征。 一、代谢途 …

由该基因编码的蛋白质在线粒体脂肪酸 β-氧化途径的第二步中起作用。 它催化 2-反式烯酰辅酶 A (CoA) 中间体水合为 L-3-羟酰基辅酶 A。 该基因产物是水合酶/异构酶超家族的成员。 它定位于线粒体基质。 文献中已经描述了利用替代转录起始位点的转录变体。 [RefSeq 提供，2008 年 7 月] The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway.

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. ECHS1 may play important roles in gastric cancer cell proliferation and migration through PKB- and GSK3b-related signaling pathways.

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([F …

该研究解释了人群ECHS1突变导致心脏缺陷的病理机制，提出调节组蛋白巴豆酰化是治疗心肌肥厚及心衰的新策略，具有重要的临床意义。 本研究得到了国家重点研发项目 (2019YFA0801500, 2020YFC2008003)、中国医学科学院医学与健康科技创新工程 (2017-I2M-1-008)、中国医学科学院中央级公益性科研院所基本科研业务费...

ECHS1, a hub DELMRG, has been previously implicated in mitochondrial function, which is consistent with its observed enrichment in processes, such as fatty acid metabolism. Similar to ECHS1, EHHADH is a key enzyme in the fatty acid β-oxidation .