DeficiencyDihydrolipoyl dehydrogenasePyruvate dehydroEnzymeDiaphoraseNADHComplexesAcetoin dehydrogenaseGeneFormate dehydrogenaseFlavoproteinProteinPutativeEnsemblOxoglutarateSequenceSubstrateSynthetaseHumanChainComplexPyruvateAcetyltransferaseDihydrolipoylAcyltransferaseAldehyde dehydrogenaseMitochondrial enzymeAcetylEnzymatic activity
Deficiency19
- DLD deficiency manifests itself in a great degree of variability, which has been attributed to varying effects of different DLD mutations on the stability of the protein and its ability to dimerize or interact with other components of the three α-ketoacid dehydrogenase complexes. (wikipedia.org)
- Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. (medlineplus.gov)
- A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. (medlineplus.gov)
- Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. (medlineplus.gov)
- Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency occur in episodes that may be triggered by fever, injury, or other stresses on the body. (medlineplus.gov)
- Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. (medlineplus.gov)
- In other populations, the prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the condition is likely rare. (medlineplus.gov)
- Mutations in the DLD gene cause dihydrolipoamide dehydrogenase deficiency. (medlineplus.gov)
- The brain is especially affected by the buildup of molecules and the lack of cellular energy, resulting in the neurological problems associated with dihydrolipoamide dehydrogenase deficiency. (medlineplus.gov)
- Human dihydrolipoamide dehydrogenase (hLADH, hE3) deficiency (OMIM# 246900) is an often prematurely lethal genetic disease usually caused by inactive or partially inactive hE3 variants. (rcsb.org)
- How common is dihydrolipoamide dehydrogenase deficiency? (blogspot.com)
- What genes are related to dihydrolipoamide dehydrogenase deficiency? (blogspot.com)
- How do people inherit dihydrolipoamide dehydrogenase deficiency? (blogspot.com)
- Are you a genetic carrier for dihydrolipoamide dehydrogenase deficiency? (dnaaccesslab.com)
- Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare inherited condition that is most common in people of Ashkenazi Jewish descent. (dnaaccesslab.com)
- DLD deficiency is caused by impaired function of the dihydrolipoamide dehydrogenase (DLD) enzyme, which is a component of three other enzyme complexes. (dnaaccesslab.com)
- Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants , HUMAN MOLECULAR GENETICS 28: (20) pp. 3339-3354. (doktori.hu)
- Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism , NEUROCHEMISTRY INTERNATIONAL 117: pp. 5-14. (doktori.hu)
- Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. (loinc.org)
Dihydrolipoyl dehydrogenase5
- Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an enzyme that in humans is encoded by the DLD gene. (wikipedia.org)
- DLDH_CANFA Dihydrolipoyl dehydrogenase, mit. (nig.ac.jp)
- DLDH_MOUSE Dihydrolipoyl dehydrogenase, mit. (nig.ac.jp)
- DLHD_MANSE Dihydrolipoyl dehydrogenase (Dih. (nig.ac.jp)
- DLDH_PEA Dihydrolipoyl dehydrogenase, mito. (nig.ac.jp)
Pyruvate dehydro2
- In the pyruvate dehydrogenase complex, it binds to the core of EC 2.3.1.12 and catalyzes oxidation of its dihydrolipoyl groups. (expasy.org)
- Most identifiable cases involve inherited or spontaneous mutations in the pyruvate dehydrogenase complex (PDC) or in one or more enzymes of the respiratory chain. (bmj.com)
Enzyme7
- DLD is a flavoprotein enzyme that oxidizes dihydrolipoamide to lipoamide. (wikipedia.org)
- Dihydrolipoamide dehydrogenase (DLD) is a mitochondrial enzyme that plays a vital role in energy metabolism in eukaryotes. (wikipedia.org)
- This gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase (DLD). (medlineplus.gov)
- DLD is one component of three different groups of enzymes that work together (enzyme complexes): branched-chain alpha-keto acid dehydrogenase (BCKD), pyruvate dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). (medlineplus.gov)
- Streptococcus pneumoniae strains lacking the enzyme dihydrolipoamide dehydrogenase (DLDH) show markedly reduced ability to grow on raffinose and stachyose as sole carbon sources. (lu.se)
- The BCKD enzyme is a multimeric enzyme complex with four components, branched-chain keto acid decarboxylase alpha and beta subunits (E1 α and E1 β ), dihydrolipoyl transacylase (E2) subunit, and dihydrolipoamide dehydrogenase (E3) subunit. (nature.com)
- The enzyme codes were noted as follows: pyruvate dehydrogenase (EC 1.2.4.1), dihydrolipoyllysine-residue acetyltransferase (EC 2.3.2.12), dihydrolipoamide dehydrogenase (EC 1.8.1.4). (biomedcentral.com)
Diaphorase1
- Acidification of the mitochondrial matrix, as a result of ischemia-reperfusion injury, can disrupt the quaternary structure of DLD leading to decreased dehydrogenase activity and increased diaphorase activity. (wikipedia.org)
NADH1
- Complejo enzimático que cataliza la DESCARBOXILACIÓN oxidativa y la DESAMINACIÓN de la GLICINA en DIÓXIDO DE CARBONO, AMONÍACO, NADH y N5N10-metilenotetrahidrofolato. (bvsalud.org)
Complexes4
- The DLD homodimer functions as the E3 component of the pyruvate, α-ketoglutarate, α-adipate and branched-chain amino acid-dehydrogenase complexes and the glycine cleavage system, all in the mitochondrial matrix. (wikipedia.org)
- A component of the multienzyme 2-oxo-acid dehydrogenase complexes. (expasy.org)
- It plays a similar role in the oxoglutarate and 3-methyl-2- oxobutanoate dehydrogenase complexes. (expasy.org)
- Formation of reactive oxygen species by human and bacterial pyruvate and 2- oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components , FREE RADICAL BIOLOGY AND MEDICINE 89: pp. 642-650. (doktori.hu)
Acetoin dehydrogenase2
- Dihydrolipoamide dehydrogenase of acetoin dehydrogenase. (ntu.edu.sg)
- Acetoin dehydrogenase E3 component (dihydrolipoamide. (ntu.edu.sg)
Gene2
- Lipoamide Dihydrolipoamide The protein encoded by the DLD gene comes together with another protein to form a dimer in the central metabolic pathway. (wikipedia.org)
- The dihyrolipamide dehydrogenase gene is known to have multiple splice variants. (wikipedia.org)
Formate dehydrogenase1
- In common, both these proteins have a bis (cysteinyl) sequence motif cys-X-X-cys (for lipoamide dehydrogenase it is cys-X-X-X-X-cys) which is also an integral part of several other proteins such as thioredoxin, protein disulfide isomerase, endoplasmic reticulum protein (ERp72), selenoprotein W, 56 kDa acetaminophen binding protein and formate dehydrogenase. (psu.edu)
Flavoprotein1
- The cycle of reaction is completed when reduced lipoamide is reoxidised by the flavoprotein, dihydrolipoamide dehydrogenase (E 3 ). (bmj.com)
Protein2
- Durch Sequenzana-lyse konnten wir eine neue DCM-verursachende Mutation (A100G) in Exon 2 des Gens DLD iden-tifizieren, das für das mitochondriale Protein Dihydrolipoamid-Dehydrogenase (E3) kodiert. (uni-wuerzburg.de)
- The in situ enzymatic digestion of the two proteins separated in 2D-SDS-PAGE gels, followed by microsequencing of the peptides, resulted in the identification of these two proteins as related to human lipoamide dehydrogenase and thiol: protein disulfide oxidoreductase (TPDO). (psu.edu)
Putative2
Ensembl2
- Dihydrolipoamide dehydrogenase of branched-chain alpha-keto acid dehydrogenase [Ensembl]. (ntu.edu.sg)
- Dihydrolipoamide dehydrogenase [Ensembl]. (ntu.edu.sg)
Oxoglutarate1
- 2-oxoglutarate dehydrogenase, E3 subu. (nig.ac.jp)
Sequence1
- Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. (wikipedia.org)
Substrate2
- Activity of purified NAD-specific isocitrate dehydrogenase at modulator and substrate concentrations approximating conditions in mitochondria. (wikipathways.org)
- It can also use free dihydrolipoate, dihydrolipoamide or dihydrolipoyllysine as substrate. (expasy.org)
Synthetase1
- These include beta-hydroxybutyrate dehydrogenase and acetoacetyl coenzyme A (CoA) synthetase (see the image below). (medscape.com)
Human3
- We establish and characterize the Bckdha ( branched chain keto acid dehydrogenase a ) −/− mouse that exhibits a lethal neonatal phenotype mimicking human MSUD. (nature.com)
- Crystal structures of the disease-causing D444V mutant and the relevant wild type human dihydrolipoamide dehydrogenase , FREE RADICAL BIOLOGY AND MEDICINE 124: pp. 214-220. (doktori.hu)
- McMillan PJ, Stimmler LM, Foth BJ, McFadden GI, Müller S. The human malaria parasite Plasmodium falciparum possesses two distinct dihydrolipoamide dehydrogenases. (huji.ac.il)
Chain1
- A Chain A, Dihydrolipoamide Dehydrogenase Of. (nig.ac.jp)
Complex3
- Pyruvate may be reduced to lactate in the cytoplasm or may be transported into the mitochondria for anabolic reactions, such as gluconeogenesis and lipogenesis, or for oxidation to acetyl CoA by the pyruvate dehydrogenase (PDH) complex (PDC). (bmj.com)
- The pyruvate dehydrogenase (PDH) multienzyme complex (PDC). (bmj.com)
- The resulting hydroxyethyl-TPP complex reacts with oxidised lipoamide (LipS 2 ), the prosthetic group of dihydrolipoamide transacetylase (E 2 ), to form acetyl lipoamide. (bmj.com)
Pyruvate32
- The DLD homodimer functions as the E3 component of the pyruvate, α-ketoglutarate, α-adipate and branched-chain amino acid-dehydrogenase complexes and the glycine cleavage system, all in the mitochondrial matrix. (wikipedia.org)
- DLD is one component of three different groups of enzymes that work together (enzyme complexes): branched-chain alpha-keto acid dehydrogenase (BCKD), pyruvate dehydrogenase (PDH), and alpha (α)-ketoglutarate dehydrogenase (αKGDH). (medlineplus.gov)
- We used as a variable the differential expression of MDM2 protein as a function of cell density to identify Nutlin-3 responsive MDM2-binding proteins that are perturbed independent of cell density using SWATH-MS. Dihydrolipoamide dehydrogenase, the E3 subunit of the mitochondrial pyruvate dehydrogenase complex, was one of two Nutlin-3 perturbed proteins identified fours hour posttreatment at two cell densities. (strath.ac.uk)
- In response to Nutlin-3, a reduction of dihydrolipoamide dehydrogenase/dihydrolipoamide acetyltransferase protein complexes highlighted a disruption of the pyruvate dehydrogenase complex. (strath.ac.uk)
- Dichloroacetate (DCA) is a structural analog of pyruvate that has been recommended for the treatment of primary lactic acidemia, particularly in patients with pyruvate dehydrogenase (PDHC) deficiency. (nature.com)
- The PDHX gene encodes component X of the pyruvate dehydrogenase (PDH) complex. (novusbio.com)
- For a detailed description of the pyruvate dehydrogenase complex, see MIM 300502. (novusbio.com)
- Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. (nih.gov)
- People with pyruvate dehydrogenase deficiency usually have neurological problems as well. (nih.gov)
- Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood. (nih.gov)
- The genes involved in pyruvate dehydrogenase deficiency each provide instructions for making a protein that is a component of a group of proteins called the pyruvate dehydrogenase complex. (nih.gov)
- The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. (nih.gov)
- The pyruvate dehydrogenase complex is made up of multiple copies of several enzymes called E1, E2, and E3, each of which performs part of the chemical reaction that converts pyruvate to acetyl-CoA. (nih.gov)
- Other associated proteins control the activity of the complex: pyruvate dehydrogenase phosphatase turns on (activates) the complex, while pyruvate dehydrogenase kinase turns off (inhibits) the complex. (nih.gov)
- The E1 enzyme, also called pyruvate dehydrogenase, is composed of four parts (subunits): two alpha subunits (called E1 alpha) and two beta subunits (called E1 beta). (nih.gov)
- Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. (nih.gov)
- A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex. (nih.gov)
- Other components of the pyruvate dehydrogenase complex are also involved in pyruvate dehydrogenase deficiency. (nih.gov)
- Mutations in the genes that provide instructions for E1 beta (the PDHB gene), the E2 enzyme (the DLAT gene), E3 binding protein (the PDHX gene), and pyruvate dehydrogenase phosphatase (the PDP1 gene) have been identified in people with this condition. (nih.gov)
- As with PDHA1 gene mutations, changes in these other genes lead to a reduction of pyruvate dehydrogenase complex activity. (nih.gov)
- The brain, which requires especially large amounts of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency. (nih.gov)
- 8. Hamster sperm capacitation: role of pyruvate dehydrogenase A and dihydrolipoamide dehydrogenase. (nih.gov)
- The pyruvate dehydrogenase complex (PDC) is one of the alpha-ketoacid dehydrogenase complexes, which are involved in energy and amino acid metabolism. (gla.ac.uk)
- pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3). (gla.ac.uk)
- The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. (thermofisher.com)
- It is composed of 3 subunits designated as E1, E2, and E3 and is a member of the short chain oxo-acid dehydrogenase family along with pyruvate dehydrogenase and 2- oxoglutarate dehydrogenase. (aacc.org)
- The crystal structure of dihydrolipoamide dehydrogenase and dihydrolipoamide dehydrogenase-binding protein (didomain) subcomplex of human pyruvate dehydrogenase complex. (yeastrc.org)
- The catalytic domain of dihydrolipoyl transacetylase (E2pCD) forms the core of the pyruvate dehydrogenase multienzyme complex and catalyzes the acetyltransferase reaction using acetylCoA as acetyl donor and dihydrolipoamide (Lip(SH)2) as acceptor. (rcsb.org)
- Mouse monoclonal antibody to Pyruvate Dehydrogenase. (nibbp2p.org)
- The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzymecomplex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), andprovides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. (nibbp2p.org)
- Mutations in this gene are associated with pyruvate dehydrogenase E1-alphadeficiency and X-linked Leigh syndrome. (nibbp2p.org)
- In its diphosphate form (also known as TDP, thiamine pyrophosphate, TPP, or cocarboxylase), it serves as a cofactor for enzymes involved in carbohydrate metabolism, including transketolase, α-ketoglutarate dehydrogenase, pyruvate dehydrogenase, and branched chain α-keto acid dehydrogenase. (ferienwohnung-gluecksburg.net)
Acetyltransferase2
- All proteins were identified by MALDI-TOF/MS. Conclusion: The proteomic 2D-DIGE analysis following LIT identified expressions of skeletal muscle proteins, includingATPsyna, UQCRC1, dihydrolipoamide dehydrogenase, dihydrolipoamide acetyltransferase, that were not previously reported to change their expressions after exercise-training. (elsevierpure.com)
- The PDHcomplex is composed of multiple copies of three enzymatic components: pyruvatedehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase(E3). (nibbp2p.org)
Dihydrolipoyl1
- Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an enzyme that in humans is encoded by the DLD gene. (wikipedia.org)
Acyltransferase3
- The E2 subunit is a dihydrolipoamide acyltransferase with a lipoic acid cofactor. (aacc.org)
- dihydrolipoamide branched chain acyltransferase activity. (yeastrc.org)
- Catalysis of transthioacylation in the active centers of dihydrolipoamide acyltransferase components of 2-oxo acid dehydrogenase complex. (njit.edu)
Aldehyde dehydrogenase1
- aldehyde dehydrogenase 7 family mem. (gsea-msigdb.org)
Mitochondrial enzyme1
- Dihydrolipoamide dehydrogenase (DLD) is a mitochondrial enzyme that plays a vital role in energy metabolism in eukaryotes. (wikipedia.org)
Acetyl1
- E2 is a dihydrolipoamide acetyl transferase. (nature.com)
Enzymatic activity1
- The latter components regulate enzymatic activity by interconverting the dehydrogenase between active (nonphosphorylated) and inactive (phosphorylated) forms involving three specific serine residues that participate in TPP binding. (ferienwohnung-gluecksburg.net)