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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)
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]
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 ...
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]
MyFloridaMarketPlace (MFMP) is the State of Florida's award-winning [14] e-Procurement system. The system, launched in 2013, is a source for centralized procurement activities, streamlining interactions between vendors and state government entities, and providing tools to support innovative procurement for the State of Florida. [15]