Sprouty-related, EVH1 domain-containing protein 1 (pronounced spread-1) is a protein that in humans is encoded by the SPRED1 gene located on chromosome 15q13.2 and has seven coding exons.
Function
SPRED-1 is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade.
Clinical associations
Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS).
Mutations in this gene are associated with Legius syndrome. Childhood leukemia
Mutations
The following mutations have been observed: An exon 3 c.46C>T mutation leading to p.Arg16Stop. This mutation may result in a truncated nonfunctional protein. Blast cells analysis displayed the same abnormality as germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or loss of heterozygosity was found). The M4/M5 phenotype of AML are most closely associated with Ras pathway mutations. Ras pathway mutations are also associated with monosomy 7. 3 Nonsense (R16X, E73X, R262X) 2 Frameshift (c.1048_c1049 delGG, c.149_1152del 4 bp) Missense (V44D) p.R18X and p.Q194X with phenotype altered pigmentation without tumoriginesis.
Disease Database SPRED1 gene variant database
See also
Neurofibromin 1 Patients without Neurofibromin 1 or SPRED1 mutations may have SPRED2, SPRED3 or SPRY1, SPRY2, SPRY3 or SPRY4 mutations.
References
Further reading