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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 ...
Size of this JPG preview of this PDF file: 463 × 599 pixels. ... Ph.D., Division of Vital Statistics, Natonal Center for Health Statistics, Center for Disease ...
Congenital amegakaryocytic thrombocytopenia manifests itself at birth, typically within the first few days of birth. Thrombocytopenia and a near absence of megakaryocytes in the bone marrow cause petechiae, purpura, and gastrointestinal, pulmonary or intracranial hemorrhage.
The prevalence of African Americans with diabetes is estimated to triple by 2050, while the prevalence of white Americans is estimated to double. [3] The overall prevalence increases with age, with the largest increase in people over 65 years of age. [3] The prevalence of diabetes in America is estimated to increase to 48.3 million by 2050. [3]
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]
In enzymology, a CDP-diacylglycerol—glycerol-3-phosphate 3-phosphatidyltransferase (EC 2.7.8.5) is an enzyme that catalyzes the chemical reaction. CDP-diacylglycerol + sn-glycerol 3-phosphate CMP + 3(3-sn-phosphatidyl)-sn-glycerol 1-phosphate