Description
Product Characteristics:
The HADHB 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. Mutations in this gene result in trifunctional protein deficiency. 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. Alternatively spliced transcript variants have been found, however, their full-length nature is not known.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: 2 enoyl Coenzyme A (CoA) hydratase beta subunit, 3 ketoacyl Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein beta subunit, 3 ketoacyl Coenzyme A thiolase, 3 ketoacyl Coenzyme A thiolase of mitochondrial trifunctional protein beta subunit, Acetyl CoA acyltransferase, Beta ketothiolase, ECHB, HADH, Hydroxyacyl Coenzyme A (CoA) dehydrogenase beta subunit, Hydroxyacyl Coenzyme A dehydrogenase, Hydroxyacyl Coenzyme A dehydrogenase beta subunit, Hydroxyacyl Coenzyme A dehydrogenase/3 ketoacyl Coenzyme A thiolase/enoyl Coenzyme A hydratase (trifunctional protein) beta subunit, Mitochondrial trifunctional enzyme beta subunit, Mitochondrial trifunctional protein beta subunit, MTPB, TP beta. TPbeta, Trifunctional enzyme subunit beta, Trifunctional enzyme subunit beta mitochondrial, Trifunctional protein, ECHB_HUMAN.
Target Information: 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. Mutations in this gene result in trifunctional protein deficiency. 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. Alternatively spliced transcript variants have been found\, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]