Trifunctional enzyme subunit alpha, mitochondrial also known as hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit is a protein that in humans is encoded by the HADHA gene. (wikipedia.org)
The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. (wikipedia.org)
TFP has three enzymatic activities - long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. (nih.gov)
LCHAD resides in the α-subunit of the mitochondrial tri-functional protein and catalyzes the third step in the β-oxidation of fatty acids in the mitochondria. (elsevierpure.com)
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. (wikipedia.org)
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. (wikipedia.org)
Long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. (perkinelmer.com)
LCHAD activity resides on the mitochondrial trifunctional protein, which acts to catalyze 3 sequential steps in β-oxidation. (perkinelmer.com)
C) in the -subunit of mitochondrial trifunctional protein. (perkinelmer.com)
Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. (nih.gov)
2003). Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency See also MTPD2 (620300), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein. (nih.gov)
All molecularly confirmed individuals (n=17) with either no symptoms (n=12), migraines (n=1), or a neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) phenotype (n=3) were found to have an A or U mitochondrial haplogroup, while one child with infantile-lethal Leigh syndrome had a B haplogroup. (stanford.edu)
Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. (lookformedical.com)
LCHAD4
Several studies have demonstrated a strong association between AFLP in the mother and fetal deficiency of the enzyme long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD). (elsevierpure.com)
LCHAD is one of two enzymes that carry out the third step (of 4) in the β-oxidation of fatty acids - the other enzyme being short-chain hydroxyacyl-CoA dehydrogenase (SCHAD), which acts on shorter-chain substrates. (perkinelmer.com)
LCHAD deficiency can present clinically from day one to 3 years of age. (perkinelmer.com)
In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. (nih.gov)
Enzyme9
The enzyme converts medium- and long-chain 2-enoyl-CoA compounds into the following 3-ketoacyl-CoA when NAD is solely present, and acetyl-CoA when NAD and CoASH are present. (wikipedia.org)
Roles of hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, a lipid metabolism enzyme, in Wilms tumor patients. (nih.gov)
GapMind searches the predicted proteins for candidates by using ublast (a fast alternative to protein BLAST) to find similarities to characterized proteins or by using HMMer to find similarities to enzyme models (usually from TIGRFams ). (lbl.gov)
This enzyme complex metabolizes long-chain fatty acids, and the long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity is specific for compounds of C12-C16 chain length. (medscape.com)
7a-hydroxycholesterol then becomes 7a-hydroxy-cholestene-3-one, which is made possible by the enzyme 3-beta-hydroxysteroid dehydrogenase type 7. (smpdb.ca)
The first, continuing in the liver, uses the enzyme 3-oxo-5-beta-steroid-4-deydrogenase to become 7a-hydroxy-5b-cholestan-3-one. (smpdb.ca)
With the help of water, peroxisomal multifunctional enzyme type 2 turns 3a,7a-dihydoxy-5b-cholest-24-enoyl-CoA into 3a,7a,24-trihydoxy-5b-cholestanoyl-CoA. (smpdb.ca)
This compound then uses peroxisomal multifunctional enzyme type 2 to create chenodeoxycholoyl-CoA. (smpdb.ca)
indicates that genes are non-redundant within the group ( e.g. genes encoding different subunits of the same enzyme). (umassmed.edu)
Deficiency12
Mutations in HADHA have been associated with trifunctional protein deficiency or long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (wikipedia.org)
Mutations in this gene result in trifunctional protein deficiency or long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (wikipedia.org)
Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarct of the placenta. (wikipedia.org)
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (wikipedia.org)
Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. (nih.gov)
Affected infants with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which is inherited as an autosomal recessive trait, present in infancy with acute hypoketotic hypoglycemia. (medscape.com)
Some patients who are deficient in all 3 enzymatic activities of the protein have been described, although most have an isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency, which results in the inability to metabolize long-chain fatty acids. (medscape.com)
Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency may develop a profound CNS deficiency of docosahexanoic acid ethyl ester (DHA), 22:6n-3. (medscape.com)
The etiology of the severe peripheral neuropathy of trifunctional protein deficiency may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation. (medscape.com)
Occurrence frequency of either isolated long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency or trifunctional protein deficiency is unknown in the United States. (medscape.com)
Patients with long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activity deficiency usually present with hypoketotic hypoglycemia, cardiomyopathy, hypotonia, and hepatomegaly at a median age of 6 months. (medscape.com)
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. (lookfordiagnosis.com)
Genes4
The real-time RT-PCR was used to verify the altered expression of selected genes by PPARs and we found that these genes were induced to express in the same pattern as detected in the microarray analyses. (biomedcentral.com)
The genes for the alpha and beta subunits have been localized to chromosome 2. (medscape.com)
PGC1α- and PGC1β-responsive OXPHOS genes show reduced expression in the muscle of patients with type 2 diabetes ( 3 , 4 ). (diabetesjournals.org)
Proliferation cluster comprised 1028 genes up-regulated from days 3 to 8 of culture meanwhile the differentiation cluster was characterized by 2140 induced genes from days 15 to 21. (biomedcentral.com)
Protein4
The other 2 activities of the protein are 2-enoyl coenzyme A (CoA) hydratase (LCEH) and long-chain 3-ketoacyl CoA thiolase (LCKT). (medscape.com)
The protein is an octamer composed of 4 alpha subunits that contain the LCEH and long-chain 3-hydroxy acyl-coenzyme A dehydrogenase activities, and 4 beta subunits that contain the LCKT activity. (medscape.com)
Levels of the alpha-subunit of the G protein (Gsalpha) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic dna from the mildly affected patient. (lookfordiagnosis.com)
From there, propionyl-CoA and chenodeoxycholoyl-CoA join forces and enlist the help of non-specific lipid transfer protein to further chenodeoxycholoyl-CoAâ€TMs journey in the peroxisome. (smpdb.ca)
Diagnostic criteria include plasma glucose levels less than 3 mmol/L with detectable serum insulin and C-peptide, low serum ketone bodies, and low serum fatty acids. (medscape.com)
It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. (nih.gov)
Thus, the clinical features may result from either toxicity due to long-chain acyl-CoA esters that cause cardiomyopathy and cardiac arrhythmias or from a block in long-chain fatty acid oxidation that leads to an inability to synthesize ketone bodies and/or adenosine triphosphate from long-chain fatty acids. (medscape.com)
FATTY ACIDS found in the plasma that are complexed with SERUM ALBUMIN for transport. (lookformedical.com)
Triglycerides are a type of fat found in the blood that are made up of three fatty acids and a glycerol molecule. (lookformedical.com)
A group of compounds that are derivatives of octadecanoic acid which is one of the most abundant fatty acids found in animal lipids. (lookformedical.com)
Long-chain1
Newborn screening using tandem mass spectrometry of a dried blood spot identifies elevated levels of several long chain hydroxyacylcarnitines (C16-OH, C16:1-OH, C18-OH, C18:1-OH and C16-OH/C16 is also found to be an informative ratio). (perkinelmer.com)
Complex1
REV1( maturation) leaves a spherical cilium subunit that can refer a C bubble opposite an complex transport( Lin et al. (erik-mill.de)
Activity2
The proteolytic activity of B. andianus venom was expressed as DMC units (Δ340 nm) hydrolyzed per mg of venom per minute and was found to be 68.5 U/mg min ± 1.75 ( Table 1). (coxsignaling.com)
Consistent with this relatively high divergence among the subtype-specific ligand binding domains, differential activation of PPARs by endogenous and exogenous compounds may account for the specific biological activity of the three PPAR subtypes [ 2 , 3 ]. (biomedcentral.com)
Alpha3
3a,7a-dihydroxy-5b-cholestanoyl-CoA remains intact while alpha-methylacyl-CoA racemase moves it along through the peroxisome. (smpdb.ca)
These components of the pathway occur in the endoplasmic reticulum membrane, although 2 enzymes, 25-hydroxycholesterol 7-alpha-hydroxylase and sterol 26 hydroxylase, are found in the mitochondria. (smpdb.ca)
Allysine will be degraded to form aminoadipic acid through alpha-aminoadipic semialdehyde dehydrogenase. (smpdb.ca)
Beta1
Diagnosis is by pelvic examination, measurement of beta subunit of human chorionic gonadotropin, and ultrasonography. (msdmanuals.com)
Lipids1
A common saturated fatty acid found in fats and waxes including olive oil, palm oil, and body lipids. (lookformedical.com)
Revisiting 7a-hydroxy-cholestene-3-one, the second chain of reactions it is involved in follows a similar path as the first, moving through the mitochondria, endoplasmic reticulum and peroxisome until choloyl-CoA is formed, which then is used in three reactions so that its derivatives may leave the cell to interact with intestinal microflora and become taurodeoxycholic acid, deoxycholic acid glycine conjugate and deoxycholic acid. (smpdb.ca)
Severe1
We report 3 non related patients with severe hypoplasia/aplasia of the thumb with an ipsilateral synostosis of the fourth and fifth metacarpals. (lookfordiagnosis.com)
Expression1
We found that the expression of each PPAR subtype was tightly controlled by the concentration of doxycycline in these established cell lines. (biomedcentral.com)
Identity2
HMMer finds a hit with 80% coverage of the model, and either other identity (lbl.gov)
ublast finds a hit at above 40% identity and 70% coverage (ignoring otherBits). (lbl.gov)
Addition1
Cells have reading renewables like kinesin influenza and subunit I addition sites to hold the size of the cortisol. (erik-mill.de)
Muscle weakness1
Physical examination of the acutely ill child may find mild to moderate hepatomegaly and muscle weakness. (perkinelmer.com)
Ratio1
In this process, acetone, butanol and ethanol are produced in a mixed fermentation (typically in a ratio of 3:6:1) by the solventogenic Clostridium species Clostridium acetobutylicum , Clostridium beijerinckii , Clostridium saccharobutylicum or Clostridium saccharoperbutylacetonicum from sugar or starch feedstocks 7 . (nature.com)
Produce1
For this yeast to produce, s is oxidized from the subunits into the Golgi plasma, and B4GALT1 leads with LALBA( glycerol) to choose its transcription localization( Brew and Hill 1975). (erik-mill.de)
Rates1
Finally, we scaled-up our optimized strains for continuous production at rates of up to ~3 g/L/h and ~90% selectivity. (nature.com)
Effects2
Similar effects have been observed in semi-professional players during 2 weeks of intensified training with ten sessions of aerobic high-intensity training (8 × 2 min with 1 min recovery) and SET-P (10-12 × 25-to 30-s sprints with 3 min recovery) concomitant with a 30% reduction in weekly training time at the end of the competitive season [124, 126]. (researchgate.net)
D-Amino may have negative effects as they can be found in some bacteria or form spontaneously in certain reactions. (smpdb.ca)
Days1
To test this hypothesis, we fed 10 insulin-sensitive males an isoenergetic HFD for 3 days with muscle biopsies before and after intervention. (diabetesjournals.org)
Culture1
3) that were divided into two major clusters corresponding to the main phases observed during the preadipocyte culture: proliferation and differentiation. (biomedcentral.com)
Coverage1
HMMer finds a hit (regardless of coverage or other bits). (lbl.gov)