ECHS1 Gene - GeneCards | ECHM Protein | ECHM Antibody
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 …
ECHS1 - Wikipedia
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 …
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
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 …
Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis
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...
引起leigh综合征、缬氨酸、脂肪酸代谢紊乱的短链烯酰辅酶A水合酶缺乏症（SCEH 或 ECHS1…
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 …
烯酰辅酶 A 水合酶，短链 1（ECHS1）基因 - MCE-生物活性 ...
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 …
ECHS1 enoyl-CoA hydratase, short chain 1 [ (human)]
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 …
ECHS1 deficiency and its biochemical and clinical phenotype
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 …
中国医学科学院北京协和医学院 - PUMC
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 …
ECHS1 as a Lipid Metabolism Biomarker for Pediatric Focal …
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 …