DLAT Chromosome 11
Dihydrolipoamide S-acetyltransferase
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What This Gene Does
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]
Gene Info
Gene Group
Pyruvate dehydrogenase complex subunits
Locus Type
gene with protein product
Location
11q23.1
Ensembl
ENSG00000150768
Associated Conditions (4)
Pyruvate dehydrogenase E2 deficiency
Inborn genetic diseases
Leigh syndrome
Pancreatic adenocarcinoma
Key Variants
RS119103240
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS143152014
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS144677434
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS149088081
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS149440666
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS183829292
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS199520186
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Leigh syndrome, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS371341957
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Leigh syndrome
Health Risk
RS781853215
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS781936816
Conflicting classifications of pathogenicity
Health Risk
RS782807951
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
Health Risk
RS78320677
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E2 deficiency, Leigh syndrome, Pyruvate dehydrogenase E2 deficiency
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS119103240 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS143152014 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS144677434 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency |
| RS149088081 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency |
| RS149440666 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS183829292 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS199520186 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Leigh syndrome, Pyruvate dehydrogenase E2 deficiency |
| RS371341957 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases, Leigh syndrome |
| RS781853215 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS781936816 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782807951 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS78320677 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E2 deficiency, Leigh syndrome, Pyruvate dehydrogenase E2 deficiency |
| RS1432866316 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS1862000857 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS2498425963 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS782009811 | Health Risk | Likely pathogenic | — |
| RS782070173 | Health Risk | Likely pathogenic | — |
| RS797044957 | Health Risk | Likely pathogenic | Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases |
| RS1862823765 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS2137679109 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS781991355 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS782029228 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS782185799 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pancreatic adenocarcinoma, Pyruvate dehydrogenase E2 deficiency |
| RS782225633 | Health Risk | Pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS367875541 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |
| RS782704553 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency |