ECHS1 Antibody

1. Due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency. PMID: 28409271
2. exceeding nutrients suppress Enoyl-CoA hydratase-1 (ECHS1) activity by inducing its acetylation resulting in accumulation of fatty acids and branched-chain amino acids and oncogenic mTOR activation PMID: 28878358
3. ECHS1 mutations phenotype might be milder than reported earlier, compatible with prolonged survival, and also includes isolated paroxysmal exercise-induced dystonia. PMID: 27090768
4. Whole exome sequencing identified heterozygous ECHS1 mutations c.836T>C (novel) and c.8C>A for short-chain enoyl-CoA hydratase (SCEH) deficiency of which 1/2 of the cases are associated with secondary lymphocyte pyruvate dehydrogenase complex deficiency.[review] PMID: 28202214
5. This is the first report of homozygosity for a truncating mutation in ECHS1, which may explain the severe phenotype. Our report highlights the need to consider SCEH deficiency in patients with lethal neonatal lactic acidosis PMID: 27905109
6. Human ECHS1 catalyses the hydration of five substrates via different metabolic pathways, with the highest specificity for crotonyl-CoA and the lowest specificity for tiglyl-CoA PMID: 26251176
7. These results suggested that ECHS1 may promote cell proliferation in hepatocellular carcinoma in an EGFR-dependent manner. PMID: 25760819
8. In conclusion, the results of the present study suggested that ECHS1 may have an important role in colorectal cancer cell proliferation and migration PMID: 25739098
9. identification of four additional patients with mutations in ECHS1 highlights the importance of the valine degradation pathway in Leigh syndrome PMID: 26099313
10. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. PMID: 25393721
11. ECHS1 may play important roles in gastric cancer cell proliferation and migration through PKB- and GSK3b-related signaling pathways. PMID: 25338767
12. The study demonstrated that ECHS1 mutations result in ECHS1 deficiency and are another cause of Leigh disease in two siblings. PMID: 25125611
13. ECHS1 knockdown reduced cell viability and enhanced cisplatin-induced apoptosis in hepatocellular carcinoma cells. PMID: 23879543
14. The results confirmed that small hepatitis B surface antigen (SHBs) interacted with ECHS1. PMID: 23275097
15. The coexistence of HBs and ECHS1 enhances HepG2 cell apoptosis, affects ECHS1 localization in the mitochondria and induces apoptosis by decreasing the mitochondrial membrane potential (MMP). PMID: 23178449
16. ECHS1 specifically represses STAT3 activity and negatively regulates the expression of several target genes of STAT3 through inhibiting STAT3 phosphorylation. PMID: 23416296
17. Expression of mitochondrial short chain enoyl-CoA hydratase (ECHS)was significantly down-modulated in virus infected glioblastoma cells and ECHS knockdown (siRNA) impaired virus replication and cytopathic effects. PMID: 17395278

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HGNC: 3151

OMIM: 602292

KEGG: hsa:1892

STRING: 9606.ENSP00000357535

UniGene: Hs.76394