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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 ...
Solid Converter PDF is document reconstruction software from Solid Documents which converts PDF files to editable formats. Originally released for the Microsoft Windows operating system, a Mac OS X version was released in 2010. The current versions are Solid Converter PDF 9.0 for Windows and Solid PDF to Word for Mac 2.1.
In February 2021 Zamzar expanded their tool and announced a new file compression service. [10] The compressor is visually similar to the conversion tool with a drag and drop download feature. As with the converter, users have the option to subscribe for a paid plan if they wish to compress multiple or larger files than the free service permits [11]
Universal Document Converter is a virtual printer and PDF creator for Microsoft Windows developed by fCoder Group. It can create PDF documents (as raster images or searchable text) and files in graphic formats JPEG, TIFF, PNG, GIF, PCX, DCX and BMP. [3] It can create graphic or PDF files from any document that can be printed.
CC PDF Converter was a free and open-source program that allowed users to convert documents into PDF files on Microsoft Windows operating systems, while embedding a Creative Commons license. [1] [2] The application leveraged RedMon and Ghostscript and was licensed under the GNU GPL. A 2013 review in PC World gave the software 4 out of 5 stars. [2]
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