Rare mutations in the MAPK3 gene have been identified with ASD (Schaaf et al., 2011).
Molecular Function
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
Human wild type mRNA was cloned into the pCS2 vector and transcribed in vitro and injected into wildtype zebrafish embryos at the 1-2 cell stage. Capped mRNA was generated and injected zebrafish embryos with equimolar pairwise cocktail combinations at two dosages of 25 pg and 50 pg; these commonly used ranges were selected because they represent >0.250.5% of total polyA+ mRNA in a zebrafish embryo and are thus likely to achieve significant overexpression above the baseline of any single transcript.
Allele Type: Overexpression
Strain of Origin: Not specified
Genetic Background: Not specified
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: 22596160
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
MAPK3 human transcript was over-expressed by injection into wildtype zebrafish embryos at the 1- to 2-cell stage.
Allele Type: Overexpression
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source: 28965845
