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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 ...
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The University of Texas Southwestern Medical Center (UT Southwestern or UTSW) is a public academic health science center in Dallas, Texas.With approximately 23,000 employees, [3] more than 3,000 full-time faculty, and nearly 4 million outpatient visits per year, UT Southwestern is the largest medical school in the University of Texas System and the State of Texas.
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.
The Perry–Castañeda Library Map Collection is an extensive map collection owned by the Perry–Castañeda Library at The University of Texas at Austin. [1] Many of the maps in the collection have been scanned and are available online, and most of these maps are public domain. [2] The collection includes maps of special interest: Afghanistan
Texas A&M University–Central Texas (A&M–Central Texas or TAMUCT) is a public university in Killeen, Texas, United States. It is one of the newest members of The Texas A&M University System . Founded in 1999 as a branch of Tarleton State University , it became an independent member of the Texas A&M University System in September 2009. [ 2 ]