Human Gene HADHB (uc002rgz.3) Description and Page Index
Description: Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000183): 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]. Transcript (Including UTRs) Position: hg19 chr2:26,467,616-26,513,333 Size: 45,718 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr2:26,477,123-26,512,821 Size: 35,699 Coding Exon Count: 15
ID:ECHB_HUMAN DESCRIPTION: RecName: Full=Trifunctional enzyme subunit beta, mitochondrial; AltName: Full=TP-beta; Includes: RecName: Full=3-ketoacyl-CoA thiolase; EC=184.108.40.206; AltName: Full=Acetyl-CoA acyltransferase; AltName: Full=Beta-ketothiolase; Flags: Precursor; CATALYTIC ACTIVITY: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA. PATHWAY: Lipid metabolism; fatty acid beta-oxidation. SUBUNIT: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin. INTERACTION: Q9H0R8:GABARAPL1; NbExp=4; IntAct=EBI-356635, EBI-746969; SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic reticulum. DISEASE: Defects in HADHB are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. SIMILARITY: Belongs to the thiolase family. SEQUENCE CAUTION: Sequence=BAA22061.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADHB";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HADHB CDC HuGE Published Literature: HADHB
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P55084
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.