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spred1
SPRED1
SPRED1 (Sprouty-related EVH1 domain) recruits NF1/neurofibromin to the plasma membrane and inhibits BRAF/CRAF to suppress RAS-MAPK; LOF → RAS-MAPK dysregulation; germline SPRED1 = Legius syndrome (café-au-lait macules without neurofibromas or cancer predisposition).
Entry Metadata
| Field | Value |
|---|---|
| ID | spred1 |
| Name | SPRED1 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007;39(9):1120-1126. · PubMed 17704774
- Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009;19(3):230-236. · PubMed 19467855