dihydrolipoamide S-acetyltransferase (DLAT)
Name: DLAT
Description: dihydrolipoamide S-acetyltransferase
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 11
GeneticSource: genomic
MapLocation: 11q23.1
OtherAliases: DLTA, PDC-E2, PDCE2
OtherDesignations: 70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit
NomenclatureSymbol: DLAT
NomenclatureName: dihydrolipoamide S-acetyltransferase
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 6875
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.
ChrSort: 11
ChrStart: 111895537
UniProtein db: DLAT UniProt protein knowledge database
Ensembl db: DLAT Ensembl genome database
Complete information for DLAT gene (protein-coding), dihydrolipoamide S-acetyltransferase
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
The DLAT gene encodes dihydrolipoamide acetyltransferase (EC 2.3.1.12), the E2 ... Gene expression patterns were assessed in normal human bronchial epithelial ...
Mouse Dlat Chr9:50442738-50467885 bp, - strand has data for genome coordinates, ... Dlat Gene Detail. Symbol. Name. ID. Dlat. dihydrolipoamide S-acetyltransferase (E2 component ...
The CCDS database identifies a core set of human protein coding regions that are consistently annotated by multiple public resources and pass quality tests.
The virulence of the H37RvdlaT mutant was fully restored by complementation with a plasmid containing the dlaT gene (Fig. 4A to E). View larger version (31K) ...
DLAT - dihydrolipoamide S-acetyltransferase - Bioportfolio ... The DLAT gene encodes dihydrolipoamide acetyltransferase, the E2 subunit of the mammalian pyruvate ...
Rat Gene Dlat. General Information. All the following links open in a new window: Aliases: ... The annotation for this gene is forthcoming over the next few months. ...
Human gene symbol report page for 'DLAT - dihydrolipoamide S-acetyltransferase'
Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have not been described previously. ...
Gene Symbol. Chromosomal location. Gene name. Log in. DLAT. 11q23.1 ... Gene Symbol. Chromosomal location. Gene name. Log in. DLAT. 11q23.1. Dihydrolipoamide ...
DLAT gene information. Official name: dihydrolipoamide S-acetyltransferase. Found: ... SERPINA3 gene information. Official name: serpin peptidase inhibitor, ...
Gene: DLAT. dihydrolipoamide S-acetyltransferase. Overview. Related ... curated publications that mention this gene along with other genes is available. ...
Gene Name. DLAT (HGNC Symbol) Synonyms: DLTA, PDCE2, PDC-E2. Small ... Histogram - Click for a histogram of the full gene sequence and mutation details. ...
DLAT (dihydrolipoamide S-acetyltransferase), Authors: Dessen P, Le Minor S. Published in: Atlas Genet Cytogenet Oncol Haematol.