DLD Chromosome 7
Dihydrolipoamide dehydrogenase
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What This Gene Does
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"Pyruvate dehydrogenase complex subunits|Oxoglutarate dehydrogenase complex subunits|Flavoproteins|Oxoadipate dehydrogenase complex subunits|Branched chain alpha-keto acid dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000091140
Associated Conditions (10)
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Inborn genetic diseases
DLD-related disorder
Thyroid cancer
nonmedullary
1
See cases
Lactic acidosis
Key Variants
RS1064795549
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS111619940
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS138002793
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS138398782
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Health Risk
RS142001971
Conflicting classifications of pathogenicity
Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS143555186
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS144038427
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Health Risk
RS145670503
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency
Health Risk
RS148148357
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Health Risk
RS150944645
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
Health Risk
RS190655078
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome
Health Risk
RS397514651
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795549 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS111619940 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency |
| RS138002793 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency |
| RS138398782 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency |
| RS142001971 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS143555186 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS144038427 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome |
| RS145670503 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency |
| RS148148357 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome |
| RS150944645 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS190655078 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome |
| RS397514651 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS533405046 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency |
| RS559057715 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome |
| RS61749951 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency |
| RS61749952 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS757275923 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS763303046 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS766286119 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS772512477 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS779166996 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency |
| RS780884637 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3 deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E3 deficiency |
| RS886061908 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1040811473 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1057517214 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS111257462 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964988 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964989 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964993 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1328820332 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1444821472 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1460356604 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554396908 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554398193 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554398264 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554398461 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554398624 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554398625 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554400179 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554400483 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554400699 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554400704 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1554400720 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2031930307 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032004082 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032247686 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032249629 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032281944 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032282970 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS2032293119 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |