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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 ...
In 2016, the Census Research Data Center program was rebranded as the Federal Statistical Research Data Center (FSRDC) program. The FSRDCs include data from the National Center for Health Statistics (NCHS), from the Agency for Healthcare Research and Quality (AHRQ), from the Bureau of Labor Statistics (BLS), from the Census Bureau , and data ...
ORWH works in partnership with the NIH institutes and centers to ensure that women's health research is part of the scientific framework at NIH and throughout the scientific community. This office is housed within the Division of Program Coordination, Planning, and Strategic Initiatives ( DPCPSI ), Office of the Director (OD), National ...
The following is a list of data centres in West Bengal. List. City/ metropolitan area Provider/ Operator ... Statistics; Cookie statement; Mobile view; Search.
This organization connects medical and research centers internationally in an effort to improve clinical practice, research, and general understanding of differences of sex development. [68] I-DSD regularly hosts a symposium to provide updates on current care in DSD internationally, facilitate networking for those in DSD Care, and promote high ...
Pages in category "Data centers" The following 82 pages are in this category, out of 82 total. This list may not reflect recent changes. ... Statistics; Cookie statement;