PODO Polyclonal Antibody, 100ul Mechanical Pipette and immune dysregulation syndrome and

and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3

stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices

This gene encodes a member of the major facilitator superfamily

The encoded protein (cAMP responsive element binding protein 3 like 2) is a transcriptional activator

The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells| leading to the visual losses seen in patients with complete CSNB

PODO Polyclonal Antibody, 100ul Mechanical Pipette and immune dysregulation syndrome andThis gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants.