ABCD1 Gene - ATP Binding Cassette Subfamily D Member 1
ABCD1: Peroxisomal Transporter and X-Linked Adrenoleukodystrophy Gene
Gene Information Card
| Symbol | ABCD1 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily D Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 215 ncbi.nlm.nih.gov/gene/215 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | P33897 |
| OMIM ID | 300371 |
| HGNC ID | 61 |
| Aliases | ALD, AMN, ALDP, ABC42 |
Description
The ABCD1 gene encodes a peroxisomal membrane protein that is a member of the ATP-binding cassette (ABC) transporter superfamily. This protein, known as adrenoleukodystrophy protein (ALDP), is involved in the transport of very long-chain fatty acids (VLCFAs) into peroxisomes for beta-oxidation. Mutations in ABCD1 cause X-linked adrenoleukodystrophy (X-ALD), a progressive neurodegenerative disorder characterized by accumulation of VLCFAs in tissues and plasma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked adrenoleukodystrophy (X-ALD) | Loss-of-function mutations in ABCD1 impair peroxisomal VLCFA transport, leading to toxic accumulation of VLCFAs in the brain, spinal cord, and adrenal cortex. | ClinVar, OMIM |
| Adrenomyeloneuropathy (AMN) | Milder adult-onset form of X-ALD caused by ABCD1 mutations, resulting in progressive spinal cord and peripheral nerve dysfunction. | ClinVar, OMIM |
| Addison disease (adrenal insufficiency) | VLCFA accumulation in the adrenal cortex due to ABCD1 deficiency leads to adrenal failure, often presenting in childhood or adulthood. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain (cerebral cortex) | 6.1 | Low |
| Testis | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 10.2 | Hepatocyte line |
| SH-SY5Y (neuroblastoma) | 7.5 | Neuronal line |
| HeLa (cervical) | 6.0 | Epithelial line |
| A549 (lung) | 5.1 | Lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1661G>A (p.Arg554His) | Missense | Common | Loss of function; impaired VLCFA transport |
| c.1415_1416delAG (p.Glu472fs) | Frameshift | Rare | Loss of function; truncated protein |
| c.1825C>T (p.Arg609*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.292C>T (p.Arg98Cys) | Missense | Rare | Loss of function; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Most ABCD1 mutations are loss-of-function, leading to deficient VLCFA transport and accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005777 - peroxisome | • GO:0005319 - lipid transporter activity |
| • GO:0015908 - fatty acid transport | • GO:0033540 - very long-chain fatty acid metabolic process |
| • GO:0005524 - ATP binding |
Pathways
• Peroxisomal beta-oxidation of VLCFAs
• ABC transporter pathway
Protein Summary
The ABCD1 protein (ALDP) is a 745-amino acid peroxisomal membrane transporter that forms homodimers or heterodimers with other ABCD subfamily members. It uses ATP hydrolysis to import very long-chain fatty acids (VLCFAs) into peroxisomes for degradation. Deficiency leads to X-linked adrenoleukodystrophy, characterized by progressive demyelination, adrenal insufficiency, and elevated plasma VLCFAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCD1 Knockout HEK293 Cell Line | EDC90269 | Human | 215 | Details Get a Quote |
| ABCD1 Knockout A-549 Cell Line | EDJ-KQ26376 | Human | 215 | Details Get a Quote |
| ABCD1 Knockout HCT 116 Cell Line | EDJ-KQ26377 | Human | 215 | Details Get a Quote |
| ABCD1 Knockout HeLa Cell Line | EDJ-KQ26378 | Human | 215 | Details Get a Quote |
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