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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 ...
A study conducted in Memphis University Libraries revealed that perpetrators of library book vandalism were a diverse group including the general public, students, researchers, academics and library staff themselves. [16] Mutilation of books at university libraries in Ghana were reported to have been significantly carried out (90%) by students. [5]
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 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 ...
The current Texas State Librarian is Gloria Meraz, appointed by the Texas State Library and Archives Commission on August 27, 2021. Meraz is the first person of color and first Hispanic woman to serve as State Librarian of Texas since the position was created in 1909. She succeeded previous Texas State Librarian, Mark Smith. [3]
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]