ABCD3 Gene - ATP Binding Cassette Subfamily D Member 3
Comprehensive gene card for ABCD3, a peroxisomal transporter involved in fatty acid metabolism and associated with adrenoleukodystrophy and Zellweger spectrum disorders.
Gene Information Card
| Symbol | ABCD3 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily D Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.3 |
| NCBI Gene ID | 5825 ncbi.nlm.nih.gov/gene/5825 |
| Ensembl ID | ENSG00000117528 |
| UniProt ID | P28288 |
| OMIM ID | 170995 |
| HGNC ID | 67 |
| Aliases | PMP70, ABC43, PMP1, ZWS2 |
Description
The ABCD3 gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily D. This protein is localized to the peroxisomal membrane and functions as a homodimeric transporter involved in the import of long-chain and very long-chain fatty acids into peroxisomes for beta-oxidation. Mutations in ABCD3 are associated with peroxisomal biogenesis disorders, including Zellweger syndrome and adrenoleukodystrophy. The gene is also implicated in hepatocarcinogenesis and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adrenoleukodystrophy (ALD) | Impaired peroxisomal transport of very long-chain fatty acids due to ABCD3 dysfunction leads to accumulation in tissues, particularly the brain and adrenal glands. | ClinVar, OMIM |
| Zellweger syndrome | Defective peroxisomal biogenesis caused by ABCD3 mutations results in severe neurological and hepatic abnormalities. | OMIM, NCBI |
| Hepatocellular carcinoma | ABCD3 overexpression or mutation may alter peroxisomal fatty acid metabolism, contributing to liver cancer progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Medium |
| Heart | 3.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 7.4 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 4.1 | Neuroblastoma cell line; low expression |
| A549 | 3.5 | Lung carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.875G>A (p.Arg292His) | Missense | 0.001% | Reduced transporter activity; associated with ALD |
| c.1246C>T (p.Arg416*) | Nonsense | <0.001% | Loss of function; linked to Zellweger syndrome |
| c.1532_1533delAG (p.Glu511Valfs*13) | Frameshift | <0.001% | Truncated protein; severe peroxisomal dysfunction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg416*, p.Glu511Valfs*13) cause complete loss of transporter function, leading to peroxisomal biogenesis disorders.
Gain of Function (GOF)
No gain-of-function mutations reported in ABCD3.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg292His) may exert dominant-negative effects by disrupting dimerization and impairing wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity |
| • peroxisomal membrane | • fatty acid transport |
| • very long-chain fatty acid metabolic process | • peroxisome organization |
Pathways
• Peroxisomal lipid metabolism
• ABC transporter pathway
• Beta-oxidation of very long chain fatty acids
Protein Summary
ABCD3 (PMP70) is a 659-amino acid peroxisomal membrane protein with six transmembrane domains and two nucleotide-binding folds. It forms homodimers to transport substrates across the peroxisomal membrane. The protein is essential for the beta-oxidation of very long-chain fatty acids and is highly expressed in liver and kidney. Structural studies reveal a conserved ABC transporter architecture, and mutations in the ATP-binding domains impair function, leading to metabolic disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCD3 Knockout HEK293 Cell Line | EDJ-KQ1905 | Human | 5825 | Details Get a Quote |
| ABCD3 Knockout A-549 Cell Line | EDJ-KQ21809 | Human | 5825 | Details Get a Quote |
| ABCD3 Knockout HCT 116 Cell Line | EDJ-KQ21810 | Human | 5825 | Details Get a Quote |
| ABCD3 Knockout HeLa Cell Line | EDJ-KQ21811 | Human | 5825 | Details Get a Quote |
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