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  3. DLAT

DLAT (Dihydrolipoamide S-acetyltransferase)

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Summary of DLAT

This gene encodes an enzyme that is part of a complex that plays an important role in the pathways that convert the energy from food into a form that cells can use (R).

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The Function of DLAT

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Protein names

Recommended name:

Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

Short name:

PBC

Alternative name(s):

70 kDa mitochondrial autoantigen of primary biliary cirrhosis
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
M2 antigen complex 70 kDa subunit
Pyruvate dehydrogenase complex component E2
PDC-E2
PDCE2

DLAT SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS2303436 (DLAT) ??
  2. RS627441 (DLAT) ??

Top Gene-Substance Interactions

DLAT Interacts with These Diseases

Disease Score

Substances That Increase DLAT

Substances Interaction Organism Category

Substances That Decrease DLAT

Substances Interaction Organism Category

Advanced Summary

     Leigh syndrome Genetics Home Reference provides information about Leigh syndrome. pyruvate dehydrogenase deficiency At least two mutations in the DLAT gene have been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very rare cause of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems. Mutations in the DLAT gene lead to an abnormal E2 enzyme and reduced activity of the pyruvate dehydrogenase complex, although the mechanism is unclear. With decreased activity of this complex, pyruvate builds up and is converted, in another chemical reaction, to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is diminished. The brain, which is especially dependent on this form of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.

     The DLAT gene provides instructions for making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is part of a large group of proteins called the pyruvate dehydrogenase complex. This complex comprises multiple copies of three enzymes, including E2, and several related proteins. The E2 enzyme is the core to which the other proteins attach to form the complex. The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. The E2 enzyme performs one part of this chemical reaction. The conversion of pyruvate is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • CUTL1
  • PPAR-gamma2
  • GR
  • GR-alpha
  • GATA-1
  • Tal-1beta
  • GATA-2
  • E47
  • FOXL1

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Citrate cycle (TCA cycle)
  • Glycolysis / Gluconeogenesis
  • Pyruvate metabolism

Cofactor:

Binds 2 lipoyl cofactors covalently.

Molecular Function:

  • Dihydrolipoyllysine-Residue Acetyltransferase Activity

Biological Processes:

  • Acetyl-Coa Biosynthetic Process From Pyruvate
  • Glucose Metabolic Process
  • Glyoxylate Metabolic Process
  • Pyruvate Metabolic Process
  • Regulation Of Acetyl-Coa Biosynthetic Process From Pyruvate
  • Sleep
  • Tricarboxylic Acid Cycle
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| E2| 70 kDa mitochondrial autoantigen of primary biliary cirrhosis| A306_14353| AS27_14021| AS28_06512| CB1_000126007| D623_10033701| dihydrolipoamide acetyltransferase| Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex| dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)| dihydrolipoamide S-acetyltransferase-like protein| dihydrolipoyllysine-residue acetyltransferase| dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex| Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial| DLTA| E2 component of pyruvate dehydrogenase complex| fc86g11| fj57d06| GW7_04293| H920_17902| M2 antigen complex 70 kDa subunit| M959_13933| MDA_GLEAN10018897| N300_14322| N301_02257| N302_11142| N303_11337| N306_01927| N307_03109| N308_07196| N309_09847| N311_10492| N320_10787| N321_08723| N324_11181| N326_03350| N327_03690| N328_00285| N330_11187| N331_04490| N332_00684| N333_00410| N334_03890| N336_05742| N340_07840| N341_00932| noa| no optokinetic nystagmus a| no optokinetic response b| nrb| PAL_GLEAN10009112| PANDA_009979| PBC| PDCE2| PDC-E2| pyruvate dehydrogenase complex component E2| UY3_07718| Y1Q_005003| Y956_12621| Z169_08836| dlat

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