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

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ECHB; MSTP029; MTPB; MTPD; TP-BETA

Summary: This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

Expression: Ubiquitous expression in heart (RPKM 140.9), duodenum (RPKM 87.4) and 25 other tissues

Gene size: 45527bp

Exon count: 17