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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 ...
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]
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
29858 Ensembl ENSG00000100417 ENSMUSG00000022474 UniProt Q92871 O35621 RefSeq (mRNA) NM_002676 NM_001282040 NM_001282041 NM_013872 RefSeq (protein) NP_002667 NP_001268969 NP_001268970 NP_038900 Location (UCSC) Chr 22: 41.58 – 41.59 Mb Chr 15: 81.84 – 81.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene ...
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.
Dry January is a challenge started in 2013 to eliminate alcohol from your diet. This is what you need to know about the health benefits.
Alaska holds the all-time U.S. record. The mercury plummeted to 80 degrees below zero on Jan. 23, 1971, in Prospect Creek, north of Fairbanks.
In Hermann–Mauguin notation, space groups are named by a symbol combining the point group identifier with the uppercase letters describing the lattice type.Translations within the lattice in the form of screw axes and glide planes are also noted, giving a complete crystallographic space group.