Full name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ECHA; GBP; HADH; LCEH; LCHAD; MTPA; TP-ALPHA

Summary: 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]

Expression: Ubiquitous expression in duodenum (RPKM 119.6), small intestine (RPKM 107.2) and 25 other tissues

Gene size: 53998bp

Exon count: 20