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SPRED1 gene

sprouty related EVH1 domain containing 1
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Normal Function

The SPRED1 gene provides instructions for making the Spred-1 protein, which helps control (regulate) the Ras/MAPK signaling pathway. The Ras/MAPK pathway is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).

The Spred-1 protein attaches (binds) to a protein called Raf, which is part of the Ras/MAPK pathway. The binding of the Spred-1 protein blocks the activation of Raf, stopping the signaling through the remainder of the Ras/MAPK pathway.

Health Conditions Related to Genetic Changes

Legius syndrome

Mutations in the SPRED1 gene cause Legius syndrome, a condition characterized by multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.

Several mutations have been identified throughout the SPRED1 gene. These mutations lead to a nonfunctional Spred-1 protein, usually because the mutated gene provides instructions for a shortened protein. The nonfunctional Spred-1 protein is unable to bind and block the activation of the Raf protein, which means the Ras/MAPK pathway is continuously active. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.

More About This Health Condition

Other Names for This Gene

  • EVH1/Sprouty domain containing protein
  • FLJ33903
  • hSpred1
  • NFLS
  • PPP1R147
  • SPRE1_HUMAN
  • spred-1
  • sprouty related, EVH1 domain containing 1
  • sprouty-related, EVH1 domain containing 1
  • sprouty-related, EVH1 domain-containing protein 1
  • suppressor of Ras/MAPK activation

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19. Citation on PubMed
  • Bundschu K, Walter U, Schuh K. Getting a first clue about SPRED functions. Bioessays. 2007 Sep;29(9):897-907. Review. Citation on PubMed
  • Froom J. Selections from current literature: hormone therapy in postmenopausal women. Fam Pract. 1991 Sep;8(3):288-92. Citation on PubMed
  • Legius E, Stevenson D. Legius Syndrome. 2010 Oct 14 [updated 2020 Aug 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK47312/ Citation on PubMed
  • Wakioka T, Sasaki A, Kato R, Shouda T, Matsumoto A, Miyoshi K, Tsuneoka M, Komiya S, Baron R, Yoshimura A. Spred is a Sprouty-related suppressor of Ras signalling. Nature. 2001 Aug 9;412(6847):647-51. Citation on PubMed
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