SPRED1

SPRED1 is a gene that in humans is encoded by the SPRED1 protein. It is a member of the Sprouty/SPRED family of proteins and is involved in cellular processes such as cell proliferation and cell migration. Mutations in this gene have been associated with a neurofibromatosis phenotype characterized by legius syndrome.

Function

The SPRED1 protein is a negative regulator of the Ras-MAPK pathway, a signaling pathway that controls cell growth and differentiation. It functions by inhibiting the activation of Raf, a key component of the Ras-MAPK pathway. This inhibition is achieved through the interaction of SPRED1 with neurofibromin 1, another negative regulator of the Ras-MAPK pathway.

Clinical significance

Mutations in the SPRED1 gene are associated with a condition known as Legius syndrome, also known as neurofibromatosis type 1-like syndrome. This condition is characterized by multiple café-au-lait spots, skin fold freckling, and a predisposition to certain types of tumors. Individuals with Legius syndrome also have an increased risk of learning disabilities and attention deficit disorder.

Research

Research into the SPRED1 gene and its associated protein has potential implications for the treatment of diseases such as cancer. By understanding how SPRED1 regulates the Ras-MAPK pathway, it may be possible to develop therapies that can modulate this pathway and inhibit tumor growth.

See also

• Sprouty gene
• Ras-MAPK pathway
• Legius syndrome
• Neurofibromatosis