Expression profiling of the superior temporal gyrus of six autistic subjects and matched controls revealed differential expression of the GADD45B gene (Garbett et al., 2008). Knockdown of GADD45B in mice and rats resulted in altered long-term contextual fear conditioning and altered juvenile social behaviors, respectively (Leach et al., 2012; Kigar et al., 2015). A de novo missense variant in this gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).
Molecular Function
This gene is a member of a group of genes that respond to environmental stresses by mediating activation of the p38/JNK pathway via binding and activation of MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Immune transcriptome alterations in the temporal cortex of subjects with autism.
Gene Name: growth arrest and DNA-damage-inducible, beta
Aliases: AI323528, Myd118, growth arrest and DNA damage-inducible protein GADD45 beta; growth arrest and DNA-damage-inducible protein GADD45 beta; myeloid differentiation primary response gene 118; myeloid differentiation primary response protein MyD118; negative growth regulatory protein MyD118
Human Ortholog: GADD45B
Summary Statistics:
# of Reports: 1
# of Models: 1
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted replacement of 2290 bp region of Gadd45b gene sequence.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified
