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DLAT dihydrolipoamide S-acetyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001931 Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. ORF Sequence $563.76
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Gene Symbol DLAT
Entrez Gene ID 1737
Full Name dihydrolipoamide S-acetyltransferase
Synonyms DLTA, PDC-E2, PDCE2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q23.1

Summary This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009].
Disorder

MIM: 608770

Pyruvate dehydrogenase E2 deficiency, 245348 (3)

mRNA Protein Product Sequence Price Select
NM_001931, 260436925 NP_001922, 31711992 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor Full Length $1523.20
ORF Sequence $563.76
KEGG
hsa_M00307Pyruvate oxidation, pyruvate => acetyl-CoA
hsa00010Glycolysis / Gluconeogenesis
hsa00620Pyruvate metabolism
hsa00020Citrate cycle (TCA cycle)
WikiPathways
WP78TCA Cycle
WP534Glycolysis and Gluconeogenesis
BIOCYC
META_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
HUMAN_PYRUVDEHYD-PWYpyruvate decarboxylation to acetyl CoA
Reactome
REACT_2071Pyruvate metabolism
REACT_111083The citric acid (TCA) cycle and respiratory electron transport
REACT_111217Metabolism
REACT_1046Pyruvate metabolism and Citric Acid (TCA) cycle
REACT_12528Regulation of pyruvate dehydrogenase (PDH) complex
Homo sapiens (human)DLATNP_001922.2
Pan troglodytes (chimpanzee)DLATXP_003313345.1
Macaca mulatta (Rhesus monkey)DLATXP_001107013.1
Canis lupus familiaris (dog)DLATXP_546524.2
Bos taurus (cattle)DLATNP_001192659.2
Mus musculus (house mouse)DlatNP_663589.3
Rattus norvegicus (Norway rat)DlatNP_112287.1
Gallus gallus (chicken)DLATXP_417933.2
Danio rerio (zebrafish)dlatNP_997832.1
Drosophila melanogaster (fruit fly)CG5261NP_609118.1
Caenorhabditis elegansdlat-1NP_506579.1
Arabidopsis thaliana (thale cress)AT1G54220NP_001031186.1
Arabidopsis thaliana (thale cress)AT3G13930NP_566470.1
GeneCards DLAT
PDB 1Y8N, 1FYC, 2Q8I, 2PNR, 1Y8O, 3B8K, 1Y8P, 2DNE, 3CRK, 3CRL
UniProt Q86YI5, P10515
MIM 608770
Ensembl ENSG00000150768
HGNC 2896
HPRD 10578

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
Names
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
PBC
M2 antigen complex 70 kDa subunit
pyruvate dehydrogenase complex component E2
E2 component of pyruvate dehydrogenase complex
70 kDa mitochondrial autoantigen of primary biliary cirrhosis
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial
NP_001922.2

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