QuickView for PDC-E2 (gene)

Gene Symbol:

DLAT Homo sapiens

Full name:

dihydrolipoamide S-acetyltransferase

Synonyms:

DLTA, PDC-E2, PDCE2, dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial, 70 kDa mitochondrial autoantigen of primary biliary cirrhosis, E2 component of pyruvate dehydrogenase complex, M2 antigen complex 70 kDa subunit, PBC, dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex, pyruvate dehydrogenase complex component E2

Genomic Location:

Chr 11: 111401381-111439799

Description:

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 tr...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGACCTY_ERR1_Q2 ,  GTGCCAA_MIR96 ,  TCCAGAT_MIR5165P ,  RGAGGAARY_PU1_Q6 ,  TAXCREB_01

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-182

Cytogenetic Map:

11q23.1

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