Aliases: FLH21957, HEL-S-31, HGK, MEKKK4, NIK
Chromosome No: 2
Chromosome Band: 2q11.2
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 2
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Rare and potentially damaging missense variants in the MAP4K4 gene were identified in an ASD proband from the MSSNG cohort and an ASD proband from the SPARK cohort (Zhou et al., 2022). Cesana et al., 2022 described two unrelated individuals with de novo loss-of-function variants in the MAP4K4 gene who presented with autism spectrum disorder, developmental delay, tall stature, and minor facial dysmorphic features.
Molecular Function
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway.
External Links
