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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. [provided by RefSeq, Jul 2008]
P40939 [Direct mapping] Trifunctional enzyme subunit alpha, mitochondrial Long-chain enoyl-CoA hydratase Long chain 3-hydroxyacyl-CoA dehydrogenase E9KL44 [Target identity:100%; Query identity:100%] Epididymis tissue sperm binding protein Li 14m
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Enzymes ENZYME proteins Oxidoreductases Lyases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)