SUFU Antibody – Rabbit Polyclonal

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SUFU: a transcriptional regulator which negatively regulates the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. Modulates nuclear-cytoplasmic shuttling of Gli-1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of FUSED to both SUFU and a GLI protein. Mutations in SUFU predispose to medulloblastoma. Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3. Part of a complex containing CTNNB1. Binds BTRC, GLI2, GLI3, SAP18 and STK36. Binds both free and DNA-bound GLI1. Defects in SUFU are a cause of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Three alternatively spliced isoforms have been described.

Protein type: Transcription, coactivator/corepressor; Adaptor/scaffold; Tumor suppressor

Chromosomal Location of Human Ortholog: 10q24.32

Cellular Component: nucleoplasm; cytoplasm; nucleus; cytosol

Molecular Function: signal transducer activity; protein binding; beta-catenin binding; transcription factor binding; transcription corepressor activity; protein kinase binding

Biological Process: skin development; cytoplasmic sequestering of transcription factor; multicellular organismal development; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription factor import into nucleus; proteolysis; signal transduction; regulation of transcription, DNA-dependent; negative regulation of smoothened signaling pathway; neural tube closure; negative regulation of osteoblast differentiation; heart looping; skeletal development; smoothened signaling pathway involved in ventral spinal cord interneuron specification; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification

Disease: Meningioma, Familial, Susceptibility To; Basal Cell Nevus Syndrome; Medulloblastoma