Suppressor Of Fused Homolog (SUFU)

SUFU encodes a component of the sonic hedgehog (SHH) / patched (PTCH) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes

The deduced 484-amino acid protein is 40% identical to the fly protein. Northern blot analysis detected ubiquitous expression of a minor 2.8-kb and a major 5.5-kb transcript. Whole-mount in situ hybridization analysis detected expression throughout mid gestation in the neural tube and, later, in the neural tube's brain and spinal cord derivatives, overlapping with expression of Ptch and Gli1 , Gli2 , and Gli3.