The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Transcription factors with Perturb-seq knockdown data for FKTN. 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 = FKTN 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 FKTN, 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 |
|---|---|---|---|---|
| chr9:104,763,613–104,764,841 | 793.9 kb | Distal (>10kb) Multiome HiCAR | 645 | |
| chr9:105,302,583–105,303,463 | 255.2 kb | Distal (>10kb) Multiome | 70 | |
| chr9:105,447,454–105,448,988 | 110.1 kb | Distal (>10kb) Multiome | 800 | |
| chr9:105,458,358–105,459,172 | 99.5 kb | Distal (>10kb) Multiome | 80 | |
| chr9:105,557,588–105,558,590 | 15 bp | At TSS Multiome | 720 | |
| chr9:105,658,116–105,659,025 | 100.5 kb | Distal (>10kb) Multiome | 133 | |
| chr9:105,676,211–105,677,128 | 118.5 kb | Distal (>10kb) Multiome | 227 | |
| chr9:105,693,575–105,695,483 | 136.5 kb | Distal (>10kb) Multiome | 751 | |
| chr9:107,028,710–107,029,579 | 1471.1 kb | Distal (>10kb) Multiome HiCAR | 180 | |
| chr9:107,130,867–107,131,827 | 1573.1 kb | Distal (>10kb) Multiome HiCAR | 242 |
Genomic view of the FKTN 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.