Gene: HADHB
Alternate names for this Gene: ECHB|MSTP029|MTPB|TP-BETA
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2p23.3
Description of this Gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Type of Gene: protein-coding
rs113112630 in
HADHB gene and
Trifunctional Protein Deficiency With Myopathy And Neuropathy
PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
PMID 8651282 1996 Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
PMID 12754706 2003 Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
PMID 9259266 1997 Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.