| Gene Symbol | ABCD2 |
| Full Name | ATP Binding Cassette Subfamily D Member 2 |
| Chromosome | 12q12 |
| Protein Type | Transporter |
| Function | is a peroxisomal ATP-binding cassette transporter primarily involved in the import of very long-chain fatty acids (VLCFAs) and branched-chain fatty acids into peroxisomes for beta-oxidation[@berger... |
| Primary Expression | brain white matter, liver, and adrenal glands |
| Amino Acids | 706 aa |
| Ensembl ID | ENSG00000173208 |
| GeneCards | ABCD2 |
| Human Protein Atlas | ABCD2 |
| Substrate specificity | Transports CoA-activated VLCFAs including hexacosanoic acid (C26:0) and lignoceric acid (C24:0) |
| Physiological importance | VLCFAs are essential components of myelin lipids (approximately 30% of myelin lipid mass) |
| Beta-oxidation | Imported VLCFAs undergo peroxisomal beta-oxidation to generate medium-chain acetyl-CoA |
| Partial compensation | ABCD2 can partially compensate for ABCD1 deficiency, which explains why complete loss of ABCD1 alone does not always cause severe disease |
| Therapeutic implications | Upregulating ABCD2 expression has been explored as a strategy for X-ALD treatment[@kemp2011] |
| Associated Diseases | Als, Ms |
| Interactions | ABCD1, ABCD3, BLOOD-BRAIN BARRIER DYSFUNCTION, CLDN5, CTNNB1, ICAM1 |
| KG Connections | 31 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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