SUFU encodes a component of the sonic hedgehog (SHH) / patched (PTCH) signalingpathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., holoprosencephaly,HPE3, basal cell nevus syndrome,BCNS, and Greig cephalopolysyndactyly syndrome,GCPS).[6]Sufu has also been found to have a crucial role in tumour suppression. To be more specific, it has a tumour-suppressorgene that predisposes, or in other words makes individuals more susceptible tomedulloblastoma, because it modulates the SHHsignalling pathway.[7] The N-terminal domain, which this entry refers to contains Glitranscription factors.[8]
Sufu is actually protein that contains two domains.[8] Ineukaryotic Sufu, an additional domain is found at the C terminus of the protein. This protein domain alsobinds to theC-terminal domain of the Gli/Citranscription factors, inhibiting their activity.[5]
^Stone DM, Murone M, Luoh S, Ye W, Armanini MP, Gurney A, Phillips H, Brush J, Goddard A, de Sauvage FJ, Rosenthal A (December 1999). "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli".J. Cell Sci.112 (23):4437–48.doi:10.1242/jcs.112.23.4437.PMID10564661.
^Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network".Nature.437 (7062):1173–8.Bibcode:2005Natur.437.1173R.doi:10.1038/nature04209.PMID16189514.S2CID4427026.
Stone DM, Murone M, Luoh S, et al. (2000). "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli".J. Cell Sci.112 (23):4437–48.doi:10.1242/jcs.112.23.4437.PMID10564661.
Murone M, Luoh SM, Stone D, et al. (2000). "Gli regulation by the opposing activities of fused and suppressor of fused".Nat. Cell Biol.2 (5):310–2.doi:10.1038/35010610.PMID10806483.S2CID31424234.
Delattre M, Briand S, Paces-Fessy M, Blanchet-Tournier MF (2001). "The Suppressor of fused gene, involved in Hedgehog signal transduction in Drosophila, is conserved in mammals".Dev. Genes Evol.209 (5):294–300.doi:10.1007/s004270050255.PMID11252182.S2CID42211231.
Taylor MD, Liu L, Raffel C, et al. (2002). "Mutations in SUFU predispose to medulloblastoma".Nat. Genet.31 (3):306–10.doi:10.1038/ng916.PMID12068298.S2CID6882566.
Lyle R, Radhakrishna U, Blouin JL, et al. (2006). "Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region".Am. J. Med. Genet. A.140 (13):1384–95.doi:10.1002/ajmg.a.31247.PMID16691619.S2CID24199907.
