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The official name of this gene is “sprouty-related, EVH1 domain containing 1.”
SPRED1 is the gene's official symbol. The SPRED1 gene is also known by other names, listed below.
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.
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.
Cytogenetic Location: 15q14
Molecular Location on chromosome 15: base pairs 38,252,086 to 38,357,248
The SPRED1 gene is located on the long (q) arm of chromosome 15 at position 14.
More precisely, the SPRED1 gene is located from base pair 38,252,086 to base pair 38,357,248 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SPRED1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
apoptosis ; cell ; differentiation ; domain ; gene ; proliferation ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.