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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 ...
The Albert B. Alkek Library is the architectural centerpiece and intellectual hub of the Texas State University San Marcos campus. It offers library patrons the opportunity to explore, create and discover in an expansive seven-story building that is packed with resources, technology and spaces for quiet or collaborative research and study.
The Harry Ransom Center, known as the Humanities Research Center until 1983, is an archive, library, and museum at the University of Texas at Austin, specializing in the collection of literary and cultural artifacts from the Americas and Europe for the purpose of advancing the study of the arts and humanities.
The University of Texas at San Antonio Libraries (UTSA Libraries) is the academic library of The University of Texas at San Antonio, a state research university in San Antonio, Texas, United States. UTSA Libraries consists of the John Peace Library (JPL) on the Main Campus, the Downtown Library, and the Applied Engineering and Technology (AET ...
Texas State University comprises over 8 million gross square feet in facilities and its campuses are located on over 600 acres with an additional 4,000 acres of agriculture, research, and recreational areas. The Texas State University main campus is located in San Marcos, Texas, midway between Austin and San Antonio along Interstate 35.
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 ...