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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as the congenital disorder of glycosylation PMM2 deficiency .
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Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene. [ 5 ] [ 6 ] [ 7 ] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis.
Paris Charles de Gaulle Airport (IATA: CDG, ICAO: LFPG), also known as Roissy Airport, is the primary international airport serving Paris, the capital city of France.The airport was opened in 1974, and is located in Roissy-en-France, 23 km (14 mi) northeast of Paris and is named for World War II leader and French President Charles de Gaulle (1890–1970), whose initials form its IATA airport code.
Accused murderer Luigi Mangione’s grandmother reportedly left tens of millions of dollars to her children and grandchildren after she died, but did so on one condition: that any grandchild ...
Tech expert Kurt “CyberGuy" Knutsson reveals ways to restore accidentally deleted text messages on your Android phone.