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Antibody detects endogenous levels of total HADHA.
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation.
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Protein Aliases: 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; 3-oxoacyl-CoA thiolase; 78 kDa gastrin-binding protein; gastrin-binding protein; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit; long-chain 2-enoyl-CoA hydratase; long-chain-3-hydroxyacyl-CoA dehydrogenase; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; Monolysocardiolipin acyltransferase; TP-alpha; Trifunctional enzyme subunit alpha, mitochondrial
Gene Aliases: C77020; ECHA; GBP; HADH; HADHA; LCEH; LCHAD; MTPA; RGD1560655; TP-ALPHA
UniProt ID: (Human) P40939, (Rat) Q64428, (Mouse) Q8BMS1
Entrez Gene ID: (Human) 3030, (Rat) 170670, (Mouse) 97212
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