ABCD1 Antibodies

Structure of ABCD1

The protein encoded by the ABCD1 gene has a molecular weight of approximately 75 kDa and is composed of 745 amino acids. This protein is located on the membrane of the peroxisome and contains a transmembrane domain and a nucleotide-binding domain. Its protein structure consists of six transmembrane helices and a cytoplasmic side ATP-binding region, forming a functional transport channel. The ABCD1 protein sequence is highly conserved among different species, especially in the nucleotide-binding domain region. This protein uses ATP hydrolysis for energy supply and transports very long-chain fatty acids from the cytoplasm to the peroxisome for β-oxidation. Abnormal protein function can lead to metabolic disorders of very long-chain fatty acids and cause X-linked adrenal leukodystrophy.

Fig. 1 3D computer model (SWISS-MODEL) shows the predicted structures of the ABCD1 protein.¹

The key structural features of the protein encoded by the ABCD1 gene:

• Six transmembrane helices form a hydrophobic channel
• The nucleotide binding domain is located on the cytoplasmic side
• The ATP binding region provides the energy for transport
• The peroxisome targeting signal ensures proper localization

Functions of ABCD1

The main function of the ABCD1 gene is to transport very long-chain fatty acids to the peroxisomes for β-oxidation and degradation. This protein plays a crucial role in lipid metabolism:

Deficiency of ABCD1 function leads to metabolic disorders of very long-chain fatty acids, with decreased substrate affinity resulting in reduced transport efficiency, causing abnormal deposition of fatty acids in tissues.

Applications of ABCD1 and ABCD1 Antibody in Literature

1. He, Raoli, et al. "Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population." Frontiers in Neurology 14 (2023): 1126729. https://doi.org/10.3389/fneur.2023.1126729

This study reported three cases of adult-onset spastic paraplegia. Through imaging, biochemical and genetic tests, they were diagnosed as adrenal medullary neurofibrosis. The study identified two new mutations in the ABCD1 gene, emphasizing the importance of this gene testing in the etiological diagnosis of adult spastic paraplegia.

2. Buda, Agnieszka, et al. "ABCD1 transporter deficiency results in altered cholesterol homeostasis." Biomolecules 13.9 (2023): 1333. https://doi.org/10.3390/biom13091333

The study found that the deficiency of ABCD1 leads to the accumulation of very long-chain fatty acids and cholesterol esters, affecting cholesterol metabolism. This process involves changes in the expression of genes such as SOAT1, NCEH1 and ABCA1, suggesting that therapeutic strategies aimed at reducing very long-chain fatty acids and cholesterol may be effective for X-linked adrenoleukodystrophy.

3. Zuo, Xinxin, and Zeyu Chen. "From gene to therapy: a review of deciphering the role of ABCD1 in combating X-linked adrenoleukodystrophy." Lipids in health and disease 23.1 (2024): 369. https://doi.org/10.1186/s12944-024-02361-0

This review comprehensively elaborates on the genetic and biochemical mechanisms of X-linked adrenoleukodystrophy, with a particular focus on the impact of ABCD1 gene mutations. The article assesses the existing therapies and their limitations, emphasizes the need to further clarify its pathogenesis, and calls for strengthening international cooperation to promote biomarker research.

4. Martinović, Ksenija, et al. "Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy." Acta Neuropathologica Communications 11.1 (2023): 98. https://doi.org/10.1186/s40478-023-01595-w

The study, using Abcd1 gene knockout mice and demyelination models, found that the ABCD1 deficiency made mature oligodendrocytes more sensitive to damage, leading to increased cell death and aggravated axonal damage. This indicates that the ABCD1 deficiency directly affects the oligodendrocyte-axon unit, increasing its vulnerability in demyelinating lesions.

5. Matsukawa, Takashi, et al. "In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy." Human Genome Variation 12.1 (2025): 5. https://doi.org/10.1038/s41439-025-00309-z

The study reported a novel deletion mutation (c.1469_71delTGG) in the ABCD1 gene of a patient with adrenal medullary neurofibromatosis. Although this variant has no clear significance in the ClinVar database, clinical assessment and biochemical analysis confirmed its pathogenicity, emphasizing the importance of functional validation of intronic deletions.

Creative Biolabs: ABCD1 Antibodies for Research

Creative Biolabs specializes in the production of high-quality ABCD1 antibodies for research and industrial applications. Our portfolio includes monoclonal and polyclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom ABCD1 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our ABCD1 antibodies, custom preparations, or technical support, contact us at email.