PGD Polyclonal Antibody, 50ul Vortex Mixer Mutations in this gene are

Mutations in this gene are associated with desmin-related myopathy

An important paralog of this gene is SERINC3

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B)

PGD Polyclonal Antibody, 50ul Vortex Mixer Mutations in this gene are6 phosphogluconate dehydrogenase (PGD) is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6 phosphogluconate dehydrogenase and 6 phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene.