Aliases: ERK-6, ERK3, ERK6, MAPK 12, P38GAMMA, PRKM12, SAPK-3, SAPK3
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 8
Evidence score: 0
Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway and plays a role in myoblast differentiation.