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. The protein encoded by SUFU is a negative regulator in this Hedgehog signaling pathway.
Genetic alterations in SUFU are a cause of medulloblastoma (MDB), which is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Defects in SUFU play a role in predisposition to desmoplastic MDB. These tumors make up about 20 to 30% of medulloblastomas, have a more nodular architecture than 'classical' medulloblastoma, and may have a better prognosis.
References (open access):
The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R. Genes Dev. 2010 Apr 1;24(7):670-82.
Identification and analysis of tumor suppressor loci at chromosome 10q23.3-10q25.3 in medulloblastoma. Scott DK, Straughton D, Cole M, Bailey S, Ellison DW, Clifford SC. Cell Cycle. 2006 Oct;5(20):2381-9.