DLAT

GENE INFORMATION

? »

Gene name

DLAT (HGNC Symbol)

Synonyms

DLTA, PDC-E2

Description

dihydrolipoamide S-acetyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

11 (Chromosome progress)

Cytoband

q23.1

Chromosome location (bp)

111895538 - 111935114

Ensembl

ENSG00000150768 (version 73.37)

Entrez gene

1737

UniProt

P10515 (UniProt - Evidence at protein level)

neXtProt

NX_P10515

Antibodypedia

DLAT antibodies
 

PROTEIN VIEW

? »
 
 
 
DLAT-001
 
DLAT-002
 
DLAT-004
 
DLAT-005
 
DLAT-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DLAT-001 ENSP00000280346
ENST00000280346
P10515
Show all »
Show » Show » 647 69 No 0
DLAT-002 ENSP00000376771
ENST00000393051
E9PEJ4
Show all »
Show » Show » 542 57.6 No 0
DLAT-004 ENSP00000435374
ENST00000533297
E9PKC7
Show all »
65 7.2 No 0
DLAT-005 ENSP00000433432
ENST00000531306
H0YDD4
Show all »
Show » Show » 479 51.2 No 0
DLAT-201 ENSP00000442427
ENST00000537636
F5H7M3
Show all »
Show » Show » 418 44.7 No 0