Aliases: JN, KIAA1189
Chromosome No: 2
Chromosome Band: 2q24.1
Genetic Category: Rare single gene variant
ASD Reports: 1
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 11
Evidence score: 3
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Relevance to Autism
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
Molecular Function
The protein encoded by the ERMN gene plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. It may also play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS.
External Links
