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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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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.
In 2003, the Legislature changed the name of Southwest Texas State to Texas State University-San Marcos. The name was shortened to Texas State University in 2013. [8] Angelo State University left the system to affiliate with the Texas Tech University System in 2007 in the most recent change in system membership. [25]
1977: University's name changes to Laredo State University. 1989: University joins The Texas A&M University System. 1993: Name changes to Texas A&M International University. 1995: An unsuccessful attempt is made to transfer TAMIU to the University of Texas System. TAMIU becomes a four-year university, welcomes its first freshman class and opens ...
West Campus as seen from the observation deck of UT Tower in 2015. West Campus (dubbed "Wampus" among students) is a neighborhood in central Austin, Texas west of Guadalupe Street (the Drag) and its namesake, the University of Texas at Austin. Due to its proximity to the university, West Campus is heavily populated by college students. [1]