DLST - dihydrolipoamide S-succinyltransferase Gene

Homo sapiens

Also known as DLTS; KGD2; PGL7

Gene ID: 1743 | Gene type: protein coding

About DLST

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,881,916-74,903,743 (from NCBI)

This gene has 16 transcripts (splice variants), 267 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 40.7), heart (RPKM 35.9) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

DLST Products(2)

mRNA	Protein	Name
NM_001244883.2	NP_001231812.1	dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 2 precursor
NM_001933.5	NP_001924.2	dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acyltransferase activity	IMP IMP: Inferred from mutant phenotype	30929736	GOA
enables dihydrolipoyllysine-residue succinyltransferase activity	IMP IMP: Inferred from mutant phenotype	30929736	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in tricarboxylic acid cycle	IMP IMP: Inferred from mutant phenotype	30929736	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

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

DLST Protein Structure

Biotin_lipoyl

2-oxoacid_dh

0
100
200
300
400
453 a.a.

Protein Preferred Names

Protein Names

dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial

E2K

Recombinant DLST Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75709	DLST Protein, Human (sf9, His)	P36957 (D68-L453)	≥95%

Related Diseases

Diseases

Alias

Paragangliomas 7

PGL7

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma	Hereditary Paraganglioma-Pheochromocytoma
Familial Pheochromocytoma-Paraganglioma	Paragangliomas 2
Paragangliomas 3	Paragangliomas 4
Sdhx-Related Paraganglioma-Pheochromocytoma	Familial Paraganglioma Syndrome
Familial Paraganglioma-Pheochromocytoma Syndromes	Fpgl
Fpgl/Pheo	Paragangliomas 1
Paraganglioma

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

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51	Cpsq4
Spastic Quadriplegic Cerebral Palsy 4	Spg51
Spastic Paraplegia 51, Autosomal Recessive

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03811	DLST Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DLST	VGNC	VGNC:39988
Felis catus	DLST	VGNC	VGNC:61522
Rattus norvegicus	DLST	RGD	RGD:1359615
Mus musculus	DLST	MGD	MGI:1926170
Bos taurus	DLST	VGNC	VGNC:28097
Macaca mulatta	DLST	VGNC	VGNC:71927
Others	DLST	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.