PDK3 Chromosome X
Pyruvate dehydrogenase kinase 3
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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 CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Pyruvate dehydrogenase kinase family
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000067992
Associated Conditions (3)
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease
PDK3-related disorder
Key Variants
RS1343030430
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS138321172
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease, PDK3-related disorder
Health Risk
RS146331370
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS1481997420
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS149603823
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS200598034
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS375475050
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS397515323
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS746108651
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS867468579
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
RS2518590189
Pathogenic
Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1343030430 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS138321172 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease, PDK3-related disorder |
| RS146331370 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS1481997420 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS149603823 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS200598034 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS375475050 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS397515323 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS746108651 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS867468579 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |
| RS2518590189 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6 |