HADHB

Chr 2AR

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Also known as: ECHB, MSTP029, MTPB, MTPD, MTPD2, TP-BETA

NCBI Gene: 3032 ENSG00000138029 UniProt: P55084 OMIM: 143450

The beta subunit of mitochondrial trifunctional protein catalyzes 3-ketoacyl-CoA thiolase activity in the final three steps of long-chain fatty acid beta-oxidation and also functions as an RNA-binding protein that destabilizes certain mRNAs. Autosomal recessive mutations cause mitochondrial trifunctional protein deficiency, a disorder of fatty acid oxidation. The pathogenic mechanism involves dominant-negative effects where mutant protein disrupts normal enzyme function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

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