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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD