SUFU is a negative regulator of the Hedgehog signaling pathway. It interacts with the GLI family of transcription factors, particularly GLI1, to inhibit their activity and prevent the transcription of target genes . The human recombinant form of SUFU is often produced in E. coli and includes an N-terminal His-tag for purification purposes .
Mutations or defects in the SUFU gene can lead to various medical conditions. One notable condition is medulloblastoma, a type of brain cancer that primarily affects children . The loss of SUFU function can result in uncontrolled cell growth due to the dysregulation of the Hedgehog signaling pathway.
Recombinant SUFU proteins are widely used in research to study the Hedgehog signaling pathway and its implications in various diseases. These proteins are utilized in antibody competition assays to confirm antibody specificity . They are also used in structural and functional studies to understand the interactions between SUFU and other components of the Hedgehog pathway.