Dihydrolipoamide Dehydrogenase

Alternative Names

  • DLD
  • Pyruvate Dehydrogenase Component E3
  • PHE3
  • E3
  • Branched Chain Alpha-Keto Acid Dehydrogenase Complex, E3 Component
  • Lipoamide Reductase
  • Lipoamide Dehydrogenase
  • LAD
  • Lipoyl Dehydrogenase
  • Dihydrolipoyl Dehydrogenase
  • Diaphorase
  • Glycine Cleavage System L Protein
  • GCSL
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OMIM Number

238331

NCBI Gene ID

1738

Uniprot ID

P09622

Length

40,624 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Dihydrolipoyl dehydrogenase, mitochondrial

Molecular Mass

54177 Da

Amino Acid Count

509

Genomic Location

chr7:107,891,106-107,921,197

Gene Map Locus
7q31.1

Description

The DLD gene has been mapped to 7q31.1 chromosome, where it encodes a mitochondrial enzyme called dihydrolipoamide dehydrogenase. This protein consists of 509 amino acids; and weighs approximately 54 kDa. It is also named the L protein of the mitochondrial glycine cleavage system. It is a component of the three alpha-ketoacid dehydrogenase multienzyme complexes; the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex.

DLD is a flavoprotein enzyme that oxidizes dihydrolipoamide to lipoamide. In addition, the DLD enzyme forms a subunit called the E3 component that is shared by several enzyme complexes, including the pyruvate dehydrogenase complex, which plays an important role in converting pyruvate to acetyl-CoA within the cells.

Defects in the dihydrolipoamide dehydrogenase enzyme are the cause of dihydrolipoamide dehydrogenase deficiency, an autosomal recessive disease characterized by lactic acidosis, which results from the accumulation of lactic acid in the body. Additionally, certain amino acids (valine, isoleucine, and leucine) and their metabolites build up in cells leading to neural damage. The latter manifests itself though seizures and developmental delay.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000108.5:c.1436A>TPalestineNC_000007.14:g.107919071A>TLikely PathogenicLikely PathogenicDihydrolipoamide Dehydrogenase DeficiencyNG_008045.1:g.32931A>T; NM_000108.5:c.1436A>T; NP_000099.2:p.Asp479Val39751464940186
NM_000108.5:c.1444A>GAlgeriachr7:107919079PathogenicPathogenicDihydrolipoamide Dehydrogenase DeficiencyNP_000099.2:p.Arg482Gly; NM_000108.5:c.1444A>G; NP_000099.2:p.Arg482Gly39751465040187
NM_000108.5:c.685G>TPalestine; Saudi Arabi...NC_000007.14:g.107915506G>TPathogenicLikely Pathogenic, PathogenicDihydrolipoamide Dehydrogenase DeficiencyNG_008045.1:g.29366G>T; NM_000108.5:c.685G>T; NP_000099.2:p.Gly229Cys12196499011966
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