ABCD1
- Known as:
- ABCD1
- Catalog number:
- Y214051
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCD1
Related genes to: ABCD1
- Gene:
- ABCD1 NIH gene
- Name:
- ATP binding cassette subfamily D member 1
- Previous symbol:
- ALD
- Synonyms:
- AMN, ALDP, adrenoleukodystrophy
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ABCD1
Related articles to: ABCD1
- We report a case of adrenomyeloneuropathy caused by a novel ABCD1 variant complicated by recurrent herpes simplex virus type 2 meningitis, with no evidence of either any clinical or radiological progression. Given previous reports describing temporal associations between infections and the recognition of cerebral adrenoleukodystrophy (ALD), careful continuous observation of the present case with attention to the development of cerebral ALD is required. The early recognition of cerebral ALD is mandatory to achieve better outcomes with hematopoietic stem cell transplantation. - Source: PubMed
Publication date: 2026/04/21
Nakamura YumikoKakumoto ToshiyukiYoshimoto MunehiroOta YusukeSuzuki AnnaKomori YutaMatsukawa TakashiMitsui JunTsuji ShojiToda Tatsushi - Solid pseudopapillary neoplasm of pancreas (SPN) is a rare low-grade malignant pancreatic tumor. The morphology of SPN exhibits considerable diversity. Accurate diagnosis is crucial due to the morphological similarity of SPN to other pancreatic tumors, including pancreatic neuroendocrine tumors (NETs), acinar cell carcinoma (ACC) and pancreatoblastoma (PB), especially in the preoperative biopsy specimen. Image-guided biopsy techniques are essential for preoperative diagnosis, but the limited tissue in biopsy samples can complicate the diagnosis of SPN from other tumors. In this study, we evaluate the diagnostic utility of ATP Binding Cassette Subfamily D Member 1 (ABCD1), a novel immunohistochemical (IHC) marker previously identified in surgically resected SPN specimens, for distinguishing SPN in biopsy samples. We analyzed biopsy samples from a cohort of 55 SPN patients (55 biopsy samples and 6 paired surgical resected samples) and compared them with samples from 61 pancreatic ductal adenocarcinoma (PDAC), 90 NET, 13 intraductal papillary mucinous neoplasm (IPMN), 7 ACC and 3 PB patients from four institutions. Our findings show that ABCD1 positively marks SPN biopsy samples consistently as surgical resected samples, with 100% overall positivity and 96.37% exhibiting moderate to strong expression. In contrast, moderate to strong ABCD1 expression was significantly lower in PDAC (3.28%) and NET (6.66%). However, strong expression was observed in 57.14% of acinar cell carcinomas (ACC). Furthermore, ABCD1 complements β-catenin in cases where nuclear β-catenin staining is ambiguous (100% ABCD1 positivity). ROC curve analysis revealed that ABCD1 exhibits excellent diagnostic performance for distinguishing SPN from other pancreatic tumors, achieving a sensitivity of 96.36% and a specificity of 93.10%, establishing it a reliable complementary diagnostic marker in biopsy samples. These results suggest that ABCD1 could serve as a valuable tool for the accurate preoperative diagnosis of SPN, thereby improving clinical management and patient outcomes. - Source: PubMed
Publication date: 2026/04/17
Liu YuanhaoPeng JunyaHe RuizheXue XiaoweiCui JieLi MengjieLiu Ying-AoXu WanniGao XiaohongWang YingmeiZhang ZheLu HaizhenSong ZhigangHu PeizhenZhao YupeiWang Wenze - X-linked adrenoleukodystrophy (ALD) presents variable neurologic and adrenal manifestations. Early diagnosis is critical for effective hematopoietic stem cell transplantation (HSCT). This study aims to characterize clinical phenotypes, expand the ABCD1 mutational spectrum, and evaluate HSCT outcomes in a Chinese pediatric cohort. We retrospectively reviewed 31 male children diagnosed with ALD from 2015 to 2023. Clinical features, adrenal function, brain MRI findings, and ABCD1 mutations were analyzed. Loes scores were determined for cerebral ALD (cALD). Overall survival was compared between early-stage cALD patients who underwent allogeneic HSCT and those who did not. Twenty-four patients had cALD, and seven presented with adrenal-only disease. Neurologic symptoms in cALD included visual/hearing impairment (37.5%), seizures (29.2%), and cognitive decline (16.7%). Adrenal insufficiency occurred in 62.5% of cALD patients. Genetic analysis identified 29 ABCD1 variants, including three novel pathogenic variants (c.77C > G, c.1119_1120insTC, c.1291C > T). While statistical significance was limited by sample size (P = 0.24), early-stage cALD patients receiving HSCT showed a clinically meaningful trend toward improved 5-year OS (78%) compared to non-transplanted patients (29%). A pre-transplant Loes score < 9 was a critical determinant of superior outcomes. - Source: PubMed
Publication date: 2026/04/16
Li JuanYing LingwenChang GuoyingDing YuYu TingtingChen JingWang Xiumin - Congenital disorders of glycosylation type Iy (SSR4-CDG, CDG1Y) is an ultra-rare X-linked disorder caused by pathogenic variants in the gene, encoding a subunit of the translocon-associated protein (TRAP) complex. While typically recognized for neurodevelopmental and facial features, its full neonatal spectrum, particularly regarding cardiac involvement, remains under-characterized. - Source: PubMed
Publication date: 2026/03/25
Zhao LingxiaZeng LingkongYi MinghuiYuan Wenhao - X-linked adrenoleukodystrophy (ALD) is a severe neurometabolic disorder caused by mutations in the ABCD1 gene, leading to impaired peroxisomal β-oxidation of very long-chain fatty acids (VLCFAs). The accumulation of saturated VLCFAs, predominantly C26:0, in plasma and across all tissues, contributes to adrenal dysfunction and progressive neurodegeneration. No approved therapy addresses the diverse spectrum of ALD manifestations, underscoring the urgent need for safe, accessible, and preventive treatments. Nervonic acid (NA), a monounsaturated fatty acid, is potentially beneficial for ALD through its neuroprotective effects. Here, we report the safety and therapeutic efficacy of NA in a 4-week dietary intervention study using a mouse model of ALD. NA treatment significantly decreased plasma C26:0-lysophosphatidylcholine, a diagnostic and disease-severity biomarker of ALD, by about 60% as early as one week after intervention. After 4-week treatment, NA markedly reduced free C26:0 and total saturated VLCFA levels in plasma and tissues. Moreover, we observed approximately 56% reduction in brain C26:0-lysophosphatidylcholine levels in NA-fed mice, an effect not reported with other drug intervention. Through comparative microbiome analysis, we show for the first time distinct baseline differences between ALD and wild-type mice, with dietary fatty acid supplementation preventing further dysbiosis. No adverse effects on body weight or food intake were observed throughout the study. Overall, this is the first report demonstrating that an oral dietary fatty acid can ameliorate the hallmark biochemical abnormalities of ALD in plasma and brain, highlighting its potential as a safe and effective therapy, particularly for presymptomatic individuals carrying this genetic defect. - Source: PubMed
Publication date: 2026/04/07
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