Rb(Phospho Ser612) Polyclonal Antibody, 100ul Centrifuge Tube (Bottle) defects in IFNGR1 are a

defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease

Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood

and to a lesser extent

Dual specificity mitogen-activated protein kinase kinase 6 phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress

Rb(Phospho Ser612) Polyclonal Antibody, 100ul Centrifuge Tube (Bottle) defects in IFNGR1 are aThe protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma.