DLD - dihydrolipoamide dehydrogenase Gene

Homo sapiens

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

Gene ID: 1738 | Gene type: protein coding

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

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

Recombinant DLD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79341	Dihydrolipoamide Dehydrogenase/DLD Protein, Human (His)	P09622 (A36-F509)	≥95%

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

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122312	BAY-8002	Inhibitor	98.39%	Unkown
HY-145669	DIF-3		98.07%	Unkown
HY-119257	ABT-100		98.18%	Unkown
HY-139691	SR15006	Inhibitor	99.95%	Unkown
HY-156375	PKM2 activator 6		/	Unkown
HY-RS03794	DLD Human Pre-designed siRNA Set A		/	Unkown
HY-121619	Jacaric acid	Inducer	/	Unkown
HY-N7305	Jatrophane 5	Inhibitor	/	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

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