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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 ...
Florida Fish and Wildlife Conservation Commission (FWCC) Other executive branch agencies and departments nominally under the authority of the Cabinet include: [ 1 ] [ 2 ] Florida Department of Highway Safety and Motor Vehicles (DHSMV)
Reports [10] evaluate state agencies and programs and analyze specific policy issues. Reports cover a variety of state agencies and issues, or analyze the impact of a potential program or policy. The Government Program Summaries (GPS) [11] is an online encyclopedia of more than 200 major Florida state government programs. It provides a basic ...
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The Florida Department of Health is responsible for protecting the public health and safety of the residents and visitors of the state of Florida. It is a cabinet-level agency of the state government, headed by a state surgeon general who reports to the governor. The department has its headquarters in Tallahassee. [1]
President Reagan had requested the consolidation of 85 existing anti-poverty grants into seven categorical grants; Congress agreed to consolidate 77 grants into nine. The nine new block grants were budgeted about 25% less than the programs they replaced (Conlan, qtd. in [2]). The CSBG legislation was amended in 1998 by the Coats Human Services ...