protein

Recombinant human Trifunctional enzyme subunit beta, mitochondrial

MBS717111

0.05 mg

195 USD

Recombinant Protein

Recombinant human Trifunctional enzyme subunit beta, mitochondrial

Trifunctional enzyme subunit beta, mitochondrial

Recombinant human Trifunctional enzyme subunit beta; mitochondrial protein

Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA; Trifunctional enzyme subunit beta, mitochondrial; trifunctional enzyme subunit beta, mitochondrial; beta-ketothiolase; acetyl-CoA acyltransferase; 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit; mitochondrial trifunctional enzyme, beta subunit; mitochondrial trifunctional protein, beta subunit; hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit; hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit; TP-betaIncluding the following 1 domains:3-ketoacyl-CoA thiolase (EC:2.3.1.16)Alternative name(s):Acetyl-CoA acyltransferase; Beta-ketothiolase

HADHB; HADHB; ECHB; MTPB; MSTP029; TP-BETA

ECHB_HUMAN

E Coli

APAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTSYKD
LMPHDLARAALTGLLHRTSVPKEVVDYIIFGTVIQEVKT
SNVAREAALGAGFSDKTPAHTVTMACISANQAMTTGVGL
IASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAK
SMGQRLSLISKFRFNFLAPELPAVSEFSTSETMGHSADR
LAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFK
VPGKDTVTKDNGIRP

0.95

Store at -20 degree C. For extended storage, conserve at -20 or -80 degree C.

Tag Information: GST-tagged

Storage Buffer: PBS pH 7.4, 50% glycerol

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.

[1] "Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

105990524

NP_000174.1

NM_000183.2

P55084

50 KD

Acyl Chain Remodeling Of CL Pathway 645330!!Beta Oxidation Of Decanoyl-CoA To Octanoyl-CoA-CoA Pathway 106127!!Beta Oxidation Of Hexanoyl-CoA To Butanoyl-CoA Pathway 106129!!Beta Oxidation Of Lauroyl-CoA To Decanoyl-CoA-CoA Pathway 106126!!Beta Oxidation Of Myristoyl-CoA To Lauroyl-CoA Pathway 106125!!Beta Oxidation Of Octanoyl-CoA To Hexanoyl-CoA Pathway 106128!!Beta Oxidation Of Palmitoyl-CoA To Myristoyl-CoA Pathway 106124!!Fatty Acid Beta Oxidation Pathway 198865!!Fatty Acid Biosynthesis, Elongation, Mitochondria Pathway 413380!!Fatty Acid Biosynthesis, Elongation, Mitochondria Pathway 468246

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. [provided by RefSeq, Jul 2008]

Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA. Ref.8. Pathway: Lipid metabolism; fatty acid beta-oxidation. Subunit structure: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Ref.10. Subcellular location: Mitochondrion. Involvement in 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. Sequence similarities: Belongs to the thiolase family. Sequence caution: The sequence BAA22061.1 differs from that shown. Reason: Erroneous gene model prediction.

0.05 mg

195 USD