PDHX Chromosome 11
Pyruvate dehydrogenase complex component X
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What This Gene Does
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Pyruvate dehydrogenase complex subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000110435
Associated Conditions (4)
Pyruvate dehydrogenase E3-binding protein deficiency
PDHX-related disorder
Inborn genetic diseases
Pyruvate dehydrogenase E1-alpha deficiency
Key Variants
RS113309941
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS118136428
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS138205941
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139052284
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS141096005
Conflicting classifications of pathogenicity
Health Risk
RS145345995
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146445744
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS146678221
Conflicting classifications of pathogenicity
Health Risk
RS146876119
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS148758785
Conflicting classifications of pathogenicity
PDHX-related disorder, PDHX-related disorder
Health Risk
RS199583315
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
RS200438675
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113309941 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS118136428 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS138205941 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139052284 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS141096005 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145345995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146445744 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS146678221 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146876119 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS148758785 | Health Risk | Conflicting classifications of pathogenicity | PDHX-related disorder, PDHX-related disorder |
| RS199583315 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS200438675 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS2494721611 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS368960575 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS377638805 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS387906998 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS61752926 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS745949756 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760454961 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764804589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768560478 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS772231144 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS886042781 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064796807 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS11539201 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS1158194122 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1306223822 | Health Risk | Likely pathogenic | — |
| RS2494703615 | Health Risk | Likely pathogenic | — |
| RS2494744424 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS2494783688 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS375860866 | Health Risk | Likely pathogenic | — |
| RS756023441 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS763473883 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS766377898 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS143131258 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS1554989996 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS2494728791 | Health Risk | Pathogenic | — |
| RS724159828 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS724159829 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS724159830 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS724159979 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS758020436 | Health Risk | Pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS912318281 | Health Risk | Pathogenic | — |
| RS1057518180 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS1135402725 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS2494708862 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS756985515 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS776567343 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E3-binding protein deficiency |