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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 ...
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases.They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
SLC35A1-CDG; Small supernumerary marker chromosome; Sorsby's fundus dystrophy; Spastin; SPATCCM; Spinal muscular atrophies; Sponastrime dysplasia; Spondylocamptodactyly; Spondylometaphyseal dysplasia, East-African type; St. Helena familial genu valgum; STAT3 GOF; STING-associated vasculopathy with onset in infancy; Swedish mutation; SYNGAP1 ...
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]
PGM is an isomerase enzyme, effectively transferring a phosphate group (PO 4 3−) from the C-3 carbon of 3-phosphoglycerate to the C-2 carbon forming 2-phosphoglycerate.There are a total of three reactions dPGM can catalyze: a mutase reaction resulting in the conversion of 3PG to 2PG and vice versa, [4] [5] a phosphatase reaction creating phosphoglycerate from 2,3-bisphosphoglycerate, [6] [7 ...
In enzymology, a phosphoglucosamine mutase (EC 5.4.2.10) is an enzyme that catalyzes the chemical reaction. alpha-D-glucosamine 1-phosphate D-glucosamine 6-phosphate. Hence, this enzyme has one substrate, alpha-D-glucosamine 1-phosphate, and one product, D-glucosamine 6-phosphate.