Gene Symbol | SUFU |
Entrez Gene ID | 51684 |
Full Name | SUFU negative regulator of hedgehog signaling |
Synonyms | JBTS32,PRO1280,SUFUH,SUFUXL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. |
Disorder MIM: | |
Disorder Html: | Medulloblastoma, desmoplastic, 155255 (3); {Meningioma, familial, susceptibility to}, 607174 (3); Basal cell nevus syndrome, 109400 (3); Joubert syndrome 32, 617757 (3) |