Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

DLST

contributors: mct - updated : 07-05-2019

HGNC name	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
HGNC id	2911

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q24.3      Physical location : 75.348.593 - 75.370.450
Synonym symbol(s)	KGDE2K, KGDHC, DLTS
EC.number	2.3.1.61

DNA

TYPE	functioning gene
STRUCTURE	21.86 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	produces two different proteins with quite different functions via alternative splicing (PMID: 19819302)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001933 15 - 2857 NP_001924 - 453 - 2016 26876595 NM_001244883 7 - 1229 NP_001231812 - 166 - 2016 26876595

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Lymphoid/Immune thymus       highly Skin/Tegument skin       highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a lipoyl-binding domain

HOMOLOGY

Homologene

FAMILY

2-oxoacid dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus

basic FUNCTION	bifunctional enzyme contributing to the biogenesis of the mitochondrial respiratory complexes
	undergoes alternative splicing, generating the protein isolated from the I bands of myofibrils
	important role for DLST in MYC-mediated leukemogenesis, demonstrating the metabolic dependence of T-lymphoblasts on the TCA cycle
	DLST is a PPGL-susceptibility gene and further strengthens the relevance of the tricarboxylic acid (TCA) cycle in PPGL development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

tricarboxylic acid cycle

a component

subunit enzyme of the alpha-ketoglutarate dehydrogenase complex of the Krebs cycle

INTERACTION

DNA

RNA

small molecule	cofactor,
	binds 1 lipoyl cofactor covalently

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       in Pheochromocytomas and paragangliomas (PPGL)

Susceptibility

to Alzheimer disease to PPGL (Pheochromocytomas and paragangliomas)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	neurotoxic effects of mitochondrial toxins were exacerbated in Dlst(+/-) mice
	overexpression of Dlst in wild-type mice protected against cardiac hypertrophy and dysfunction