• Source: SPRED1

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



This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• SPRED1
• Legius syndrome
• Leukemia
• RASopathy
• List of syndromes
• T-cell acute lymphoblastic leukemia
• List of human protein-coding genes 4
• Neurofibromin
• List of OMIM disorder codes
• SPRY2