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 (e.g., holoprosencephaly, HPE3; basal cell nevus syndrome, BCNS; and Greig cephalopolysyndactyly syndrome; GCPS).[2]
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