SPRED1
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
sprouty related EVH1 domain containing 1
Normal Function
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 ConditionRelated Conditions
Legius syndrome
Health Conditions Related to Genetic Changes
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.