This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for OAT. 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 = OAT 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 OAT, 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 |
|---|---|---|---|---|
| chr10:124,388,665–124,389,857 | 29.6 kb | Distal (>10kb) Multiome | 506 | |
| chr10:124,417,910–124,419,729 | 94 bp | At TSS Multiome | 794 | |
| chr10:124,448,804–124,450,505 | 31.2 kb | Distal (>10kb) Multiome | 289 | |
| chr10:124,461,513–124,462,370 | 43.0 kb | Distal (>10kb) Multiome | 629 | |
| chr10:124,469,789–124,470,407 | 51.2 kb | Distal (>10kb) Multiome | 215 | |
| chr10:124,565,553–124,566,190 | 147.0 kb | Distal (>10kb) Multiome | 253 |
Genomic view of the OAT 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.