Dihydrolipoamide dehydrogenase

Dihydrolipoamide dehydrogenase

PDB rendering based on 1zy8.
Identifiers
Symbols DLD; DLDH; E3; GCSL; LAD; PHE3
External IDs OMIM238331 MGI107450 HomoloGene84 GeneCards: DLD Gene
EC number 1.8.1.4
Orthologs
Species Human Mouse
Entrez 1738 13382
Ensembl ENSG00000091140 ENSMUSG00000020664
UniProt P09622 O08749
RefSeq (mRNA) NM_000108 NM_007861.4
RefSeq (protein) NP_000099 NP_031887.2
Location (UCSC) Chr 7:
107.53 – 107.57 Mb
Chr 12:
32.02 – 32.04 Mb
PubMed search [1] [2]
dihydrolipoyl dehydrogenase
Identifiers
EC number 1.8.1.4
CAS number 9001-18-7
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an enzyme that in humans is encoded by the DLD gene.[1][2][3][4] DLD is a flavoprotein enzyme that degrades lipoamide, and produces dihydrolipoamide.

Contents

Function

This gene encodes the L protein of the mitochondrial glycine cleavage system. 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.[1]

Clinical significance

Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency.[1]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.[5]

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Citric_acid_cycle edit

See also

References

  1. ^ a b c "Entrez Gene: dihydrolipoamide dehydrogenase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1738. 
  2. ^ Otulakowski G, Robinson BH (December 1987). "Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases". J. Biol. Chem. 262 (36): 17313–8. PMID 3693355. 
  3. ^ Pons G, Raefsky-Estrin C, Carothers DJ, Pepin RA, Javed AA, Jesse BW, Ganapathi MK, Samols D, Patel MS (March 1988). "Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes". Proc. Natl. Acad. Sci. U.S.A. 85 (5): 1422–6. doi:10.1073/pnas.85.5.1422. PMC 279783. PMID 3278312. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=279783. 
  4. ^ Scherer SW, Otulakowski G, Robinson BH, Tsui LC (1991). "Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32". Cytogenet. Cell Genet. 56 (3-4): 176–7. PMID 2055113. 
  5. ^ The interactive pathway map can be edited at WikiPathways: "TCACycle_WP78". http://www.wikipathways.org/index.php/Pathway:WP78. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.