The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ABCD3. 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 = ABCD3 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 ABCD3, 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 |
|---|---|---|---|---|
| chr1:94,045,555–94,046,076 | 372.6 kb | Distal (>10kb) Multiome HiCAR | 556 | |
| chr1:94,148,998–94,149,784 | 269.1 kb | Distal (>10kb) Multiome | 44 | |
| chr1:94,236,814–94,238,189 | 180.8 kb | Distal (>10kb) Multiome | 709 | |
| chr1:94,247,152–94,248,342 | 170.7 kb | Distal (>10kb) Multiome | 521 | |
| chr1:94,327,061–94,327,698 | 90.9 kb | Distal (>10kb) Multiome | 243 | |
| chr1:94,342,282–94,342,957 | 75.8 kb | Distal (>10kb) Multiome | 83 | |
| chr1:94,417,844–94,419,337 | 144 bp | At TSS Multiome | 948 | |
| chr1:94,540,914–94,542,577 | 123.4 kb | Distal (>10kb) Multiome | 726 | |
| chr1:94,570,815–94,571,430 | 152.7 kb | Distal (>10kb) Multiome | 129 | |
| chr1:94,572,275–94,573,057 | 154.2 kb | Distal (>10kb) Multiome | 73 | |
| chr1:94,657,564–94,658,605 | 239.7 kb | Distal (>10kb) Multiome | 208 |
Genomic view of the ABCD3 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.