| Entrez gene ID | | 5825 |
| Official gene symbol | | ABCD3 |
| Full name | | ATP-binding cassette, sub-family D (ALD), member 3 |
| Aliases | | ,ABC43,PMP70,PXMP1,ZWS2, |
| Gene summary | | 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] |
| Location | | Chromosome: 1 Locus: 1p22-p21 |
| Gene position | | 94883933 - 94984219 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 100287 bp |
| Gene sequence |
| |
| OMIM ID | | 170995 |
|