Aliases: NRF3
Chromosome No: 7
Chromosome Band: 7p15.2
Genetic Category: Rare single gene variant--Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 2
Annotated variants: 5
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
De novo likely gene-disruptive (LGD) variants in the NFE2L3 gene have been identified in two ASD probands (Iossifov et al., 2014; Yuen et al., 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified NFE2L3 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1); NFE2L3 was similarly identified as a gene with an excess of de novo LGD variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Molecular Function
This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope.
External Links
