Human pathology

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SUFU

MIM.607035 10q24-q25

SUFU encodes a component of the sonic hedgehog/patched signaling pathway (SHH/PTCH signaling pathway).

Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes: HPE3) (MIM.142945), BCNS (MIM.109400) and GCPS (MIM.175700).

Pathology

- somatic mutations in

  • medulloblastoma