ABCD2: ATP Binding Cassette Subfamily D Member 2
A peroxisomal transporter involved in very long-chain fatty acid metabolism and linked to adrenoleukodystrophy spectrum disorders.
Gene Information Card
| Symbol | ABCD2 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily D Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q11-q12 |
| NCBI Gene ID | 225 ncbi.nlm.nih.gov/gene/225 |
| Ensembl ID | ENSG00000173208 |
| UniProt ID | Q9UBJ2 |
| OMIM ID | 601081 |
| HGNC ID | 67 |
| Aliases | ALDR, ALD2, ABC42 |
Description
The ABCD2 gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily D. The encoded protein is localized to peroxisomal membranes and functions as a homodimeric or heterodimeric transporter involved in the import of very long-chain fatty acids (VLCFAs) into peroxisomes for beta-oxidation. Mutations in ABCD2 have been associated with adrenoleukodystrophy (ALD) spectrum disorders, particularly as a modifier gene for X-linked ALD. The gene is also implicated in peroxisomal biogenesis disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adrenoleukodystrophy (X-linked) | Modifier gene; altered VLCFA transport may influence disease severity | ClinVar, OMIM |
| Peroxisomal biogenesis disorder | Defective peroxisomal import of VLCFAs leads to accumulation | OMIM, NCBI |
| Zellweger syndrome spectrum | Impaired peroxisomal function due to transporter deficiency | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adrenal gland | 8.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.3 | Hepatocyte-derived |
| SH-SY5Y | 7.1 | Neuroblastoma |
| HeLa | 5.6 | Cervical carcinoma |
| HEK293 | 4.9 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62Trp) | Missense | <0.01% | Reduced VLCFA transport activity |
| c.266G>A (p.Arg89Gln) | Missense | <0.01% | Impaired peroxisomal targeting |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg62Trp) reduce or abolish VLCFA transport into peroxisomes, leading to substrate accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported in ABCD2.
Dominant Negative (DN)
No dominant-negative mutations reported; disease association is primarily recessive or modifier.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005777 - peroxisome | • GO:0005319 - lipid transporter activity |
| • GO:0015908 - very long-chain fatty acid transport | • GO:0033540 - fatty acid beta-oxidation using acyl-CoA oxidase |
Pathways
• Peroxisomal lipid metabolism
• Very long-chain fatty acid beta-oxidation
Protein Summary
ABCD2 encodes a peroxisomal membrane protein (ALDR) that functions as an ATP-dependent transporter for very long-chain fatty acids. It forms homodimers or heterodimers with ABCD1 (ALD protein) to facilitate substrate entry into peroxisomes for beta-oxidation. The protein is highly expressed in liver and adrenal tissues, consistent with its role in lipid metabolism. Mutations in ABCD2 can modify the clinical presentation of X-linked adrenoleukodystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCD2 Knockout HEK293 Cell Line | EDJ-KQ4046 | Human | 225 | Details Get a Quote |
| ABCD2 Knockout HeLa Cell Line | EDJ-KQ52593 | Human | 225 | Details Get a Quote |
| ABCD2 Knockout A-549 Cell Line | EDJ-KQ61070 | Human | 225 | Details Get a Quote |
| ABCD2 Knockout HCT 116 Cell Line | EDJ-KQ69553 | Human | 225 | Details Get a Quote |
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