Anticorps Anti - ECHS1 produit dans la souris, immunoglobulin purifiée, solution aqueuse tamponnée

Non disponible en dehors du Royaume-Uni et de l'Irlande

Application

Anti-ECHS1 antibody produced in mouse is suitable for indirect immunofluorescence and western blot applications.

Biochem/physiol Actions

ECHS1 (Enoyl CoA hydratase, short chain, 1, mitochondrial) performs in the mitochondrial β-oxidation of fatty acid by catalyzing the second step of the process i.e. hydration of 2-trans-enoyl-coenzyme A (CoA) to L-3-hydroxyacyl-CoAs. It also participates in different metabolic pathways involving fatty acids and amino acids, valine. Study reports that heterozygous mutation in ECHS1 causes Leigh syndrome with hypotonia, metabolic acidosis, and developmental delay symptoms.

General description

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. (provided by RefSeq)

Immunogen

ECHS1 (NP_004083.2, 1 a.a. ~ 290 a.a) full-length human protein.SequenceMAALRVLLSCARGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKIFEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCDIIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQCAEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

Physical form

Solution in phosphate buffered saline, pH 7.4