full name
dihydrolipoamide dehydrogenase

synonyms
DLDD, DLDH, E3, GCSL, LAD, PHE3, DLD, ENSG00000091140

HGNC
HGNC:2898

Entrez Gene
Gene:1738

ENSEMBL
ENSG00000091140

location
chr: 7
start: 107531586
stop: 107561643
strand: +

OMIM
OMIM:238331: DLD (Autosomal recessive inheritance)
OMIM:246900: Dihydrolipoamide dehydrogenase deficiency

transcripts
NM_000108.3

pathways
2-oxobutanoate degradation [NCBI:142413] [BIOCYC:HUMAN_PWY-5130] [PUBMED:1346616] [PUBMED:3718468] [PUBMED:3555348] [PUBMED:1975493] [PUBMED:3460076] [PUBMED:6643681] [PUBMED:10502773] [PUBMED:16752391]
2-oxoglutarate decarboxylation to succinyl-CoA [NCBI:142336] [BIOCYC:HUMAN_PWY-5084] [PUBMED:9655933]
2-oxoisovalerate decarboxylation to isobutanoyl-CoA [NCBI:142335] [BIOCYC:HUMAN_PWY-5046] [PUBMED:9655933] [PUBMED:12795594]
Branched-chain amino acid catabolism [NCBI:1270161] [REACTOME:R-HSA-70895]
Carbon metabolism [NCBI:814926] [KEGG:hsa01200]
Citrate cycle (TCA cycle) [NCBI:82927] [KEGG:hsa00020]
Citrate cycle (TCA cycle, Krebs cycle) [NCBI:855811] [KEGG:hsa_M00009]
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate [NCBI:413348] [KEGG:hsa_M00011]
Citric acid cycle (TCA cycle) [NCBI:1270125] [REACTOME:R-HSA-71403] [PUBMED:16746585] [PUBMED:16747180] [PUBMED:6773467]
Glycine degradation [NCBI:1309222] [REACTOME:R-HSA-6783984] [PUBMED:18941301]
Glycine, serine and threonine metabolism [NCBI:82949] [KEGG:hsa00260] [PUBMED:7639721] [PUBMED:15520012] [PUBMED:11823218] [PUBMED:15470257] [PUBMED:10473374] [PUBMED:16707670] [PUBMED:17636255] [PUBMED:11341914]
Glycolysis / Gluconeogenesis [NCBI:82926] [KEGG:hsa00010]
Glyoxylate and dicarboxylate metabolism [NCBI:83002] [KEGG:hsa00630] [PUBMED:10978349] [PUBMED:16407450] [PUBMED:11513957] [PUBMED:18065535] [PUBMED:21252347] [PUBMED:9596633] [PUBMED:18819910]
Glyoxylate metabolism and glycine degradation [NCBI:1270180] [REACTOME:R-HSA-389661] [PUBMED:15956068]
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism [NCBI:1309221] [REACTOME:R-HSA-6788656]
Leucine degradation, leucine => acetoacetate + acetyl-CoA [NCBI:413354] [KEGG:hsa_M00036]
Lysine catabolism [NCBI:1270163] [REACTOME:R-HSA-71064] [PUBMED:6434529] [PUBMED:12126930]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Propanoate metabolism [NCBI:83004] [KEGG:hsa00640]
Pyruvate metabolism [NCBI:82998] [KEGG:hsa00620] [NCBI:1270123] [REACTOME:R-HSA-70268] [PUBMED:2188967] [PUBMED:7273846]
Pyruvate metabolism and Citric Acid (TCA) cycle [NCBI:1270122] [REACTOME:R-HSA-71406]
Pyruvate oxidation, pyruvate => acetyl-CoA [NCBI:413431] [KEGG:hsa_M00307]
Regulation of pyruvate dehydrogenase (PDH) complex [NCBI:1270124] [REACTOME:R-HSA-204174] [PUBMED:12676647]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Retinoic Acid [NCBI:1269630] [REACTOME:R-HSA-5362517] [PUBMED:21621639] [PUBMED:21718801] [PUBMED:21529158] [PUBMED:24393720]
The citric acid (TCA) cycle and respiratory electron transport [NCBI:1270121] [REACTOME:R-HSA-1428517]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
glycine cleavage [NCBI:545340] [BIOCYC:HUMAN_GLYCLEAV-PWY] [PUBMED:15791207] [PUBMED:9934985] [PUBMED:6402507] [PUBMED:16051266] [PUBMED:16450403] [PUBMED:1993704]
isoleucine degradation [NCBI:142358] [BIOCYC:HUMAN_ILEUDEG-PWY] [PUBMED:4150713] [PUBMED:773366]
leucine degradation [NCBI:142359] [BIOCYC:HUMAN_LEU-DEG2-PWY] [PUBMED:13892210] [PUBMED:6773935] [PUBMED:773366] [PUBMED:6304077] [PUBMED:4150714]
pyruvate decarboxylation to acetyl CoA [NCBI:142412] [BIOCYC:HUMAN_PYRUVDEHYD-PWY] [PUBMED:9651365] [PUBMED:22883228] [PUBMED:9278141] [PUBMED:12631265] [PUBMED:20022530] [PUBMED:9242632] [PUBMED:12023822] [PUBMED:11752427] [PUBMED:14638692]
superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle [NCBI:835393] [BIOCYC:HUMAN_PWY66-407]
superpathway of methionine degradation [NCBI:142373] [BIOCYC:HUMAN_PWY-5328]
threonine degradation [NCBI:1108780] [BIOCYC:HUMAN_PWY66-428] [PUBMED:7827500] [PUBMED:12361482] [PUBMED:18342636] [PUBMED:3888978] [PUBMED:728468] [PUBMED:7028754] [PUBMED:3718468] [PUBMED:12097150]
valine degradation [NCBI:142387] [BIOCYC:HUMAN_VALDEG-PWY] [PUBMED:10745006] [PUBMED:3827880] [PUBMED:6933702]