DLD - dihydrolipoamide dehydrogenase Gene

Also Known as E3; LAD; DLDD; DLDH; GCSL; PHE3; OGDC-E3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1738

About DLD

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:107,891,107-107,921,198 (from NCBI)

This gene has 13 transcripts (splice variants), 226 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 53.0), fat (RPKM 39.4) and 25 other tissues.

Summary

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DLD Products (4)

mRNA	Protein	Name
NM_000108.5	NP_000099.2	dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor
NM_001289750.1	NP_001276679.1	dihydrolipoyl dehydrogenase, mitochondrial isoform 2
NM_001289751.1	NP_001276680.1	dihydrolipoyl dehydrogenase, mitochondrial isoform 3
NM_001289752.1	NP_001276681.1	dihydrolipoyl dehydrogenase, mitochondrial isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to branched-chain alpha-keto acid dehydrogenase activity	IDA IDA: Inferred from direct assay	3593587	GOA
enables dihydrolipoyl dehydrogenase activity	IDA IDA: Inferred from direct assay	16442803	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16263718	GOA
contributes to pyruvate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	9242632	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in acetyl-CoA biosynthetic process from pyruvate	IDA IDA: Inferred from direct assay	24534072	GOA
involved in branched-chain amino acid catabolic process	IDA IDA: Inferred from direct assay	3593587	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of branched-chain alpha-ketoacid dehydrogenase complex	IDA IDA: Inferred from direct assay	3593587	GOA
part of branched-chain alpha-ketoacid dehydrogenase complex	IPI IPI: Inferred from physical interaction	3593587	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	29211711	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29211711	GOA
part of oxoadipate dehydrogenase complex	IDA IDA: Inferred from direct assay	29191460	GOA
part of oxoglutarate dehydrogenase complex	IDA IDA: Inferred from direct assay	29211711	GOA
part of pyruvate dehydrogenase complex	IDA IDA: Inferred from direct assay	9242632	GOA
part of pyruvate dehydrogenase complex	IPI IPI: Inferred from physical interaction	19240034	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLD Protein Structure

Pyr_redox_2

Pyr_redox

Pyr_redox_dim

0
100
200
300
400
509 a.a.

Protein Preferred Names	Protein Names
dihydrolipoyl dehydrogenase, mitochondrial	E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex

DLD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DLD	P09622	PRDX6	Homo sapiens	P30041	Anti Bait CoIP	29128334
Intra	DLD	P09622	PRDX6	Homo sapiens	P30041	Crosslink	29128334
Intra	DLD	P09622	YWHAE	Homo sapiens	P62258	Anti Bait CoIP	29128334
Intra	DLD	P09622	YWHAE	Homo sapiens	P62258	Crosslink	29128334
Intra	DLD	P09622	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	DLD	P09622	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	DLD	P09622	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	DLD	P09622	PDHX	Homo sapiens	O00330	X-Ray Diffraction	16263718
Intra	DLD	P09622	PDHX	Homo sapiens	O00330	Anti Tag CoIP	33961781
Intra	DLD	P09622	PDHX	Homo sapiens	O00330	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

DLD Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81949	Lipoamide Dehydrogenase Antibody (YA1694)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81949A	Lipoamide Dehydrogenase Antibody (YA1694)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Dihydrolipoamide Dehydrogenase Deficiency	Dld Deficiency E3 Deficiency Pyruvate Dehydrogenase E3 Deficiency Maple Syrup Urine Disease, Type Iii DLDD E3-Deficient Maple Syrup Urine Disease Lactic Acidosis Due To Lipoamide Dehydrogenase Deficiency Lipoamide Dehydrogenase Deficiency Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due To Dihydrolipoyl Dehydrogenase Deficiency Lactic Acidosis Due To Lad Deficiency Maple Syrup Urine Disease Type Iii Msud Type Iii Msud Type 3 Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lacticacidemia Due To Pdx1 Deficiency PDHXD Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex 2-Oxoglutarate Complex Deficiency Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency Diaphorase Deficiency Dihydrolipoyl Dehydrogenase Deficiency Glycine Cleavage System L Protein Deficiency Lipoamide Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Component E3 Deficiency Pyruvate Dehydrogenase Protein X Component Deficiency Nadh Cytochrome B5 Reductase Deficiency
Cork-Handlers' Disease	Suberosis Cork-Handlers' Disease Or Lung Cork-Handlers' Lung Corkhandler Disease Corkworker Lung Corkhandler Hypersensitivity Pneumonitis Cork-Handler Disease Cork-Handler Lung
Progressive Myoclonus Epilepsy 8	Emp8 Pme Type 8 Progressive Myoclonic Epilepsy Due To Cers1 Deficiency Progressive Myoclonus Epilepsy Type 8
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	2-Aminoadipic 2-Oxoadipic Aciduria Amoxad AAKAD 2-Ketoadipic Aciduria Alpha-Aminoadipic Aciduria Amino Adipic Aciduria Aciduria, 2-Aminoadipic 2-Oxoadipic
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	CMTX6 Charcot-Marie-Tooth Disease X-Linked Dominant 6 Cmt6x X-Linked Charcot-Marie-Tooth Disease Type 6 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 Charcot-Marie-Tooth Neuropathy X-Linked 6 Charcot-Marie-Tooth Disease, X-Linked, Type 6
Charcot-Marie-Tooth Disease, Axonal, Type 2q	Charcot-Marie-Tooth Disease Axonal Type 2q CMT2Q Charcot-Marie-Tooth Neuropathy, Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Neuropathy Type 2q Charcot-Marie-Tooth Disease 2q Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q Charcot-Marie-Tooth Neuropathy Axonal Type 2q
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency	BCKDKD Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Bckdk Deficiency Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Glycine Encephalopathy	Non-Ketotic Hyperglycinemia Nonketotic Hyperglycinemia NKH GCE Hyperglycinemia, Nonketotic Hyperglycinemia Nonketotic Infantile Glycine Encephalopathy Encephalopathy, Glycine Glycine Synthase Deficiency Nka Neonatal Glycine Encephalopathy Classic Glycine Encephalopathy Neonatal Nkh Neonatal Non-Ketotic Hyperglycinemia Infantile Nkh Infantile Non-Ketotic Hyperglycinemia Non-Ketotic Hyperglycinaemia Glycine Cleavage Deficiency Nonketotic Hyperglycinaemia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (27)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122312	BAY-8002	Inhibitor	98.84%	Unkown
HY-139691	SR15006	Inhibitor	99.90%	Unkown
HY-177512	MSC778	Inhibitor	/	Unkown
HY-119257	ABT-100		≥98.0%	Unkown
HY-169652	NPC26	Activator	98.0%	Unkown
HY-156375	PKM2 activator 6		/	Unkown
HY-120667	DS-5272		/	Unkown
HY-118829	3,4-Methylenedioxy PV9 hydrochloride		99.90%	Unkown
HY-153674	PROTAC SOS1 degrader-4	Degrader	/	Unkown
HY-161654	PROTAC SOS1 degrader-10		/	Unkown
HY-163816	Antiproliferative agent-53-d3	Inhibitor	/	Unkown
HY-165606	SB-T-1214	Inducer	/	Unkown
HY-168716	SOS1-IN-17	Inhibitor	/	Unkown
HY-168733	LDHA-IN-9		/	Unkown
HY-176701	PRMT5-MTA-IN-4	Inhibitor	/	Unkown
HY-177967	Antitumor agent-209		/	Unkown
HY-179413	Polθ-IN-9	Inhibitor	/	Unkown
HY-RS03794	DLD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04711	FAM3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07574	LDHD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-121619	Jacaric acid	Inducer	/	Unkown
HY-122063	FR260330	Inhibitor	/	Unkown
HY-N13886	Anicequol		/	Unkown
HY-N7305	Jatrophane 5	Inhibitor	/	Unkown
HY-RS19107	Dld Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25597	Dld Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W098807	4-Chloro-7-ethoxyquinoline		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DLD	RGD	RGD:735073
Felis catus	DLD	VGNC	VGNC:102576
Bos taurus	DLD	VGNC	VGNC:28085
Canis familiaris	DLD	VGNC	VGNC:39976
Mus musculus	DLD	MGD	MGI:107450
Macaca mulatta	DLD	VGNC	VGNC:71807
Others	DLD	NCBI