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Cow (Bovine) Polyclonal HADHB Primary Antibody for IHC, WB - ABIN2783232
Wang, Yang, Zhu, Wang, Yang, Wang, Zhai, Li, Yu: [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant]. in Zhonghua fu chan ke za zhi 2007
Show all 3 Pubmed References
Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA (show HADHA Antibodies) and HADHB mRNAs.
nonstructural protein 5 (show CAPS Antibodies) (NS5 (show RAF1 Antibodies)) interacted with hydroxyacyl-CoA dehydrogenase (show HADH Antibodies) alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP (show MT1B Antibodies)) 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 (show ESR2 Antibodies) was indeed associated and colocalized with HADHB within mitochondria.
HADHB is a functional molecular target of estrogen receptor alpha (show ESR1 Antibodies) 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 (show HADHA Antibodies) and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP (show MT1B Antibodies) 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.
Mutation analysis of the HADHB gene of patient 4 identified compound heterozygosity of N114D/N307D.
nonstructural protein 5 (show CAPS Antibodies) (NS5 (show RAF1 Antibodies)) interacted with hydroxyacyl-CoA dehydrogenase (show HADH Antibodies) alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP (show LAPTM4A Antibodies)) involved in LCFA beta-oxidation
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