| URN | urn:agi-llid:225 |
|---|---|
| Name | ABCD2 |
| Description | ATP-binding cassette, sub-family D (ALD), member 2 |
| Connectivity | 18 |
| Notes | 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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq] |
| Swiss-Prot Accession | B2RAM3 |
|---|---|
| Q9UBJ2 | |
| Q61285 | |
| Q3TU16 | |
| Q3UYE0 | |
| Q9QZ30 | |
| Q9QZ31 | |
| Q9QY44 |
| Unigene ID | Hs.117852 |
|---|---|
| Mm.295456 | |
| Rn.19678 |
| KEGG ID | hsa:225 |
|---|---|
| mmu:26874 | |
| rno:84356 |
| Swiss-Prot ID | ABCD2_HUMAN |
|---|---|
| ABCD2_MOUSE | |
| ABCD2_RAT | |
| B2RAM3_HUMAN |
| Cell Localization | Mitochondria |
|---|
| GO ID | 0005524 |
|---|---|
| 0016887 | |
| 0000166 | |
| 0005515 | |
| 0006631 | |
| 0006810 | |
| 0043190 | |
| 0005887 | |
| 0016020 | |
| 0005778 | |
| 0005777 | |
| 0017111 | |
| 0016021 |
| Pathway | Toxicology Array |
|---|---|
| New Pathway | |
| PPARalpha Pathway |
| IPI ID | IPI00002618 |
|---|---|
| IPI00309437 | |
| IPI00213550 |
| Ariadne Ontology | Fatty acid oxidation |
|---|
| Mouse chromosome position | 15 E-F |
|---|
| GO Molecular Function | protein binding |
|---|---|
| nucleotide binding | |
| ATP binding | |
| nucleoside-triphosphatase activity | |
| ATPase activity |
| Homologene ID | 55873 |
|---|
| Hugo ID | 66 |
|---|
| GO Cellular Component | membrane |
|---|---|
| peroxisome | |
| peroxisomal membrane | |
| ATP-binding cassette (ABC) transporter complex | |
| integral to membrane | |
| integral to plasma membrane |
| MGI ID | 1349467 |
|---|
| Human chromosome position | 12q11-q12 |
|---|
| GO Biological Process | fatty acid metabolic process |
|---|---|
| transport |
| Rat chromosome position | 7q35 |
|---|
| Group | Fatty acid oxidation |
|---|---|
| membrane | |
| peroxisome | |
| peroxisomal membrane | |
| ATP-binding cassette (ABC) transporter complex | |
| integral to membrane | |
| integral to plasma membrane | |
| protein binding | |
| nucleotide binding | |
| ATP binding | |
| nucleoside-triphosphatase activity | |
| ATPase activity | |
| fatty acid metabolic process | |
| transport |
| RGD ID | 69244 |
|---|
| LocusLink ID | 225 |
|---|---|
| 26874 | |
| 84356 |
| Alias | ALDR |
|---|---|
| ABC39 | |
| ALDL1 | |
| ALDRP | |
| hALDR | |
| ATP-binding cassette, sub-family D, member 2 | |
| adrenoleukodystrophy-like 1 | |
| adrenoleukodystrophy-like | |
| adrenoleukodystrophy related | |
| ATP-binding cassette, sub-family D (ALD), member 2 | |
| Adrenoleukodystrophy related protein | |
| ATP-binding cassette, sub-family D, member II | |
| ATP-binding cassette, sub-family D (ALD), member II | |
| Abcd2 | |
| ALD1 | |
| ALDL I | |
| ALD I | |
| adrenoleukodystrophy-like I |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601081 |
|---|