Pyruvate dehydrogenase (lipoamide) beta
Pyruvate dehydrogenase (lipoamide) beta is a protein that in humans is encoded by the PDHB gene. This protein is a component of the pyruvate dehydrogenase complex, which is an enzyme complex that catalyzes the conversion of pyruvate to acetyl-CoA and carbon dioxide. This conversion is a crucial step in the metabolic pathway for the production of adenosine triphosphate (ATP).
Structure[edit | edit source]
The PDHB gene is located on the third chromosome, with its specific location being 3p14.2. The gene contains 10 exons. The PDHB gene produces a 39.5 kDa protein composed of 359 amino acids. The structure of the protein is a dimer, which means it consists of two identical subunits.
Function[edit | edit source]
The pyruvate dehydrogenase (lipoamide) beta protein is a major enzyme component of the pyruvate dehydrogenase complex. This complex is involved in a critical energy-yielding step in carbohydrate metabolism, which involves the decarboxylation of pyruvate. The product of this decarboxylation is acetyl-CoA, which enters the citric acid cycle (also known as the Krebs cycle) to be further broken down for energy production.
Clinical significance[edit | edit source]
Mutations in the PDHB gene are associated with pyruvate dehydrogenase E1-beta deficiency. This condition is characterized by a variety of symptoms, including developmental delay, lactic acidosis, and neurological dysfunction. Treatment typically involves a high-fat, low-carbohydrate diet.
See also[edit | edit source]
- Pyruvate dehydrogenase complex
- Pyruvate dehydrogenase (lipoamide) alpha 1
- Pyruvate dehydrogenase (lipoamide) alpha 2
References[edit | edit source]
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