pyruvate dehydrogenase phosphatase catalytic subunit 1
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L PDP1 gene provides instructions for making a protein called pyruvate dehydrogenase phosphatase 1, which is part of a large group of proteins called the pyruvate dehydrogenase complex. The pyruvate dehydrogenase phosphatase 1 protein turns on (activates) the complex by removing a phosphate group (a cluster of oxygen and phosphorus atoms) from the complex.
Normal function
L PDP1 gene provides instructions for making a protein called pyruvate dehydrogenase phosphatase 1, which is part of a large group of proteins called the pyruvate dehydrogenase complex. The pyruvate dehydrogenase phosphatase 1 protein turns on (activates) the complex by removing a phosphate group (a cluster of oxygen and phosphorus atoms) from the complex.
The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This enzyme converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.
Conditions referring to this gene or chromosome
Altri nomi
PDH
PDP
PDP 1
PDP1_HUMAN
PDPC
PDPC 1
PPM2C
protein phosphatase 2C, magnesium-dependent, catalytic subunit
pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase
pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
pyruvate dehyrogenase phosphatase catalytic subunit 1
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Ulteriori letture e riferimenti
- pyruvate dehydrogenase phosphatase catalytic subunit 1; MedlinePlus, National Library of Medicine.
- Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30.
- Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK571223/
- Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. doi: 10.1210/jc.2005-0123. Epub 2005 Apr 26.
- Roche TE, Hiromasa Y, Turkan A, Gong X, Peng T, Yan X, Kasten SA, Bao H, Dong J. Essential roles of lipoyl domains in the activated function and control of pyruvate dehydrogenase kinases and phosphatase isoform 1. Eur J Biochem. 2003 Mar;270(6):1050-6. doi: 10.1046/j.1432-1033.2003.03468.x.
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