Aliases: CORK-1, CORK1, GWTM1933, HEL-S-300, PEBP-4, PRO4408, hPEBP4
Chromosome No: 8
Chromosome Band: 8p21.3
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 14
Evidence score: 2
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the PEBP4 gene (Bonferroni-corrected cluster P-value of 5.26E-03).
Molecular Function
The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases. Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization.
External Links
