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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 ...
The following is a list of accredited colleges and universities in the U.S. state of Florida. Many of these schools have multiple campuses, and therefore only the location of the main campus in Florida is specified.
The State University System of Florida (SUSF or SUS) is a system of twelve public universities in the U.S. state of Florida. As of 2018, over 341,000 students were enrolled in Florida's state universities. [ 1 ]
The College of Education, Health, and Human Sciences has six academic departments which offer undergraduate and graduate degree programs in 27 fields of study. The academic programs prepare students for positions as leaders in the classroom and school system environment, as well as those who conduct research to improve education, instruction ...
Master's colleges and universities are institutions that "awarded at least 50 master's degrees in 2013–14, but fewer than 20 doctorates." [7] M1: Master's colleges and universities: larger programs are larger programs that awarded at least 200 master's-level degrees (325)
The ARWU ranked UF's College of Medicine 51st among schools of medicine across the globe in 2012. [6] In December 2018 Expertscape recognized it as #4 in the world for expertise in Diabetes Mellitus Type 1. [7] The University of Florida College of Medicine was awarded $372.6 million in annual research expenditures in sponsored research for 2024 ...