HADHB

Also known as ECHB, MSTP029, MTPB, TP-BETA, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit, hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene.

Gene data

HADHB

Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Type: protein-coding
Position: 26,243,170–26,290,467 (+)
Aliases: ECHB, MSTP029, MTPB, MTPD, MTPD2, TP-BETA
Ensembl: ENSG00000138029
RefSeq RNA: NM_000183.3, NM_001281512.2, NM_001281513.2, NM_001445824.1, NM_001445825.1
RefSeq protein: NP_000174.1, NP_001268441.1, NP_001268442.1, NP_001432753.1, NP_001432754.1

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].