This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Forensic Context
A study in humans using post-mortem cardiac tissues from sudden cardiac death victims identified a promoter variant in the NEXN gene, c.-194A>G, which was statistically significantly associated with decreased expression of the NEXN and cardiac hypertrophy [Jeppe D. Andersen et al. DOI:10.1007/s00414-019-02127-9]. This genetic re-examination via whole genome and transcriptome sequencing highlights the potential of investigating regulatory non-coding DNA variants and correlating them with gene expression to understand genetic risk factors in cases of sudden arrhythmic death syndrome.