Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for NEFL. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NEFL upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NEFL, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr8:24,912,517–24,915,825 | 43.0 kb | Distal (>10kb) Multiome | 498 | |
| chr8:24,941,444–24,943,387 | 14.6 kb | Distal (>10kb) Multiome | 350 | |
| chr8:24,955,106–24,957,101 | 56 bp | At TSS Multiome | 491 | |
| chr8:24,957,388–24,957,932 | 667 bp | At TSS | 111 | |
| chr8:24,999,947–25,001,936 | 43.6 kb | Distal (>10kb) Multiome | 524 | |
| chr8:25,183,660–25,185,871 | 228.1 kb | Distal (>10kb) Multiome | 631 |
Genomic view of the NEFL locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.