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Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs.
nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation
Mutations in HADHB, which encodes the beta-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
Heterozygous mutation in HADHB gene cause early-onset axonal axonal Charcot-Marie-tooth disease.
The results demonstrated that ERbeta was indeed associated and colocalized with HADHB within mitochondria.
HADHB is a functional molecular target of estrogen receptor alpha in the mitochondria, and the interaction may play an important role in the estrogen-mediated lipid metabolism in animals and humans.
mutational analysis of the HADHB gene, which encodes long-chain 3-ketoacyl-CoA thiolase, identified compound heterozygous mutations of c.520C>T (p.R141C) and c.1331G>A (p.R411K) in a case of mitochondrial trifunctional protein deficiency
Results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects.
Recombinant mitochondrial trifunctional protein displayed 2-enoyl-CoA hydratase, l-3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activities.
The present findings showed that all missense mutations in HADHB were disease-causing.
HADHB trifunctional enzyme, human renin, and poly(C)-binding protein are novel renin mRNA-binding proteins that target a cis-element in the 3'-UTR of renin mRNA and regulate renin production
Both alpha- and beta-subunit mutations result in TFP complex instability, demonstrating that the mechanism of disease is the same in alpha- or beta-mutation-derived disease and explaining the biochemical and clinical similarities.
The common disease causing mutation of G1528C in MTP gene in caucasian in probably not a common mutation in Chinese Han people in Beijing.
Mutation analysis of the HADHB gene of patient 4 identified compound heterozygosity of N114D/N307D.
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.
2-enoyl-Coenzyme A (CoA) hydratase, beta subunit
, 3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit
, acetyl-CoA acyltransferase
, hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
, trifunctional enzyme subunit beta, mitochondrial
, hydroxyacyl dehydrogenase, subunit B
, dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
, mitochondrial trifunctional protein, beta subunit
, 3-ketoacyl-Coenzyme A thiolase
, enoyl-Coenzyme A hydratase, beta subunit
, trifunctional enzyme beta subunit, mitochondrial
, dehydrogenase/3-ketoacyl-Coenzyme A thiolase
, hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta aubunit