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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 (zeige PDP Proteine) complex deficiency.[review]
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
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
These results suggested that ECHS1 may promote cell proliferation in hepatocellular carcinoma in an EGFR (zeige EGFR Proteine)-dependent manner.
In conclusion, the results of the present study suggested that ECHS1 may have an important role in colorectal cancer cell proliferation and migration
identification of four additional patients with mutations in ECHS1 highlights the importance of the valine degradation pathway in Leigh syndrome
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.
The study demonstrated that ECHS1 mutations result in ECHS1 deficiency and are another cause of Leigh disease in two siblings.
ECHS1 knockdown reduced cell viability and enhanced cisplatin-induced apoptosis in hepatocellular carcinoma cells.
potential protein targets for the loss of PostC may include F(1)-ATPase gamma, Echs1 and Hsp20 (zeige HSPB6 Proteine) that could regulate cellular ATP consumption/production and defense response to ischaemic stress
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. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature.
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial
, enoyl-CoA hydratase 1
, enoyl-CoA hydratase, mitochondrial
, short-chain enoyl-CoA hydratase
, short chain enoyl-CoA hydratase
, Enoyl-CoA hydratase short chain 1 mitochondrial
, Enoyl-CoA hydratase, short chain 1, mitochondrial
, enoyl Coenzyme A hydratase, short chain 1
, mitochondrial short-chain enoyl-coenzyme A hydratase 1