PDHB Chromosome 3

Pyruvate dehydrogenase E1 subunit beta
43 variants 43 Health Risk

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What This Gene Does
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Pyruvate dehydrogenase complex subunits
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000168291
Associated Conditions (12)
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
Gastric cancer
Clear cell carcinoma of kidney
Lung cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Key Variants
RS151247980
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS199983136
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS201105914
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases
Health Risk
RS373907802
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS377063331
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency, Gastric cancer
Health Risk
RS747916943
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS768436316
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS773433623
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS886058779
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS1019990431
Likely pathogenic
Pyruvate dehydrogenase E1-beta deficiency, Clear cell carcinoma of kidney, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS1274606876
Likely pathogenic
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
RS1454439049
Likely pathogenic
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
Health Risk
All Variants (43)
RSID Category Clinical Significance Conditions
RS151247980 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS199983136 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS201105914 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases
RS373907802 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS377063331 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency, Gastric cancer
RS747916943 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS768436316 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS773433623 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS886058779 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1019990431 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Clear cell carcinoma of kidney, Pyruvate dehydrogenase E1-beta deficiency
RS1274606876 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1454439049 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS201199166 Health Risk Likely pathogenic Lung cancer, Familial cancer of breast, Uterine corpus endometrial carcinoma
RS2107943571 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363712 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363855 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471366690 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367783 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471368092 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471370449 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471374158 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS28935769 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS767832452 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS863224158 Health Risk Likely pathogenic —
RS868788199 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1320317596 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1553848441 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2062912705 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2062921303 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363904 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471365738 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471366728 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367604 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367665 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367755 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471374605 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS28933391 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS747573712 Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS863225125 Health Risk Pathogenic —
RS1390415306 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS373124742 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS772084220 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS778727916 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
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