Rb(Phospho Ser795) Polyclonal Antibody, 50ul Syringe Filter Mutations in TUFM have been

Mutations in TUFM have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy

including one with a novel exon that is generated by RNA editing

including RAB11B (RAB11B

Additional alternatively spliced transcript variants of DYRK4 have been described

which has sequence-specific distal enhancer binding RNA polymerase II transcription-factor activity

Rb(Phospho Ser795) Polyclonal Antibody, 50ul Syringe Filter Mutations in TUFM have beenThe 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.