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PGM3 encodes a member of the phosphohexose mutase family. De plus, nous expédions Phosphoglucomutase 3 Anticorps (61) et Phosphoglucomutase 3 Kits (2) et beaucoup plus de produits pour cette protéine.
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Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes
Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.
Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.
Polymorphic analysis of the human phosphoglucomutase-3 gene.
PGM(3) is identical to AGM(1).
Two hypomorphic alleles of mouse Pgm3 are described and specific physiological consequences of a graded reduction in Pgm3 activity and global UDP-GlcNAc (Montrer B3GNT2 Protéines) levels, are shown.
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
, phosphoacetylglucosamine mutase
, phosphoacetylglucosamine mutase-like
, N-acetylglucosamine-phosphate mutase 1
, acetylglucosamine phosphomutase
, GlcNAc-P mutase
, N-acetylglucosamine-phosphate mutase
, PGM 3