SPRED1

Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) is a is_associated_with::protein that in humans is encoded by the SPRED1 is_associated_with::gene located on chromosome 15q13.2 and has seven coding is_associated_with::exons.

Function
Spred-1 is a member of the Sprouty family of proteins and is phosphorylated by is_associated_with::tyrosine kinase in response to several is_associated_with::growth factors. The encoded protein can act as a homodimer or as a heterodimer with is_associated_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
 * is_associated_with::Legius syndrome.
 * Childhood is_associated_with::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