SPRED1

Sprouty-related, EVH1 domain-containing protein 1 (Spred-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.
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