PDK1 Chromosome 2

Pyruvate dehydrogenase kinase 1
1 variant 1 Health Risk

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What This Gene Does
Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Pyruvate dehydrogenase kinase family
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000152256
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS141078693 Health Risk Conflicting classifications of pathogenicity
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