SPRED1

Sprouty-related, EVH1 domain-containing protein 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.
Mutations in this gene are associated with

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. 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
2 Frameshift
Missense
p.R18X and p.Q194X with phenotype altered pigmentation without tumoriginesis.