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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 ...
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 ...
In enzymology, a CDP-diacylglycerol—glycerol-3-phosphate 3-phosphatidyltransferase (EC 2.7.8.5) is an enzyme that catalyzes the chemical reaction. CDP-diacylglycerol + sn-glycerol 3-phosphate CMP + 3(3-sn-phosphatidyl)-sn-glycerol 1-phosphate
Post-nominal letters are letters placed after the name of a person to indicate that the individual holds a position, office, or honour.. An individual may use several different sets of post-nominal letters.
Landline and submarine telegraphers' telegraphs had adopted the convention of using the station code "CQ" to all stations along a telegraph line.As the first wireless operators were taken from the already trained landline telegraphers, the current practices carried forward and CQ had then been adopted in maritime radiotelegraphy as a "general call" to any ship or land station.
Comme des Garçons for H&M tuxedo jacket, 2009. The label was started in Tokyo by Rei Kawakubo in 1969 and established as a company in 1973. The brand's name was inspired by Françoise Hardy's 1962 song "Tous les garçons et les filles", particularly from the line "Comme les garçons et les filles de mon âge" ("like the boys and girls my age"). [7]