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PGM3 encodes a member of the phosphohexose mutase family. Zusätzlich bieten wir Ihnen Phosphoglucomutase 3 Antikörper (54) und Phosphoglucomutase 3 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia
PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile.
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 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