This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
Transcription factors with Perturb-seq knockdown data for AMACR. 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 = AMACR 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 AMACR, 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 |
|---|---|---|---|---|
| chr5:33,440,328–33,441,918 | 567.2 kb | Distal (>10kb) Multiome HiCAR | 971 | |
| chr5:33,891,468–33,892,881 | 115.8 kb | Distal (>10kb) Multiome | 260 | |
| chr5:33,929,045–33,930,097 | 78.5 kb | Distal (>10kb) Multiome | 81 | |
| chr5:33,935,991–33,936,950 | 71.8 kb | Distal (>10kb) Multiome | 282 | |
| chr5:34,001,372–34,001,766 | 6.3 kb | Proximal (<10kb) | 100 | |
| chr5:34,007,301–34,007,417 | 632 bp | At TSS | 99 | |
| chr5:34,007,535–34,008,720 | 20 bp | At TSS Multiome | 987 |
Genomic view of the AMACR 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.