ABCD3
- Known as:
- ABCD3
- Catalog number:
- 000927A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCD3
Related genes to: ABCD3
- Gene:
- ABCD3 NIH gene
- Name:
- ATP binding cassette subfamily D member 3
- Previous symbol:
- PXMP1
- Synonyms:
- PMP70, ZWS2
- Chromosome:
- 1p21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1992-03-03
- Date modifiied:
- 2015-11-13
Related products to: ABCD3
Related articles to: ABCD3
- Tumor hypoxia promotes dedifferentiation and metabolic reprogramming in hepatocellular carcinoma (HCC), undermining normal liver functions. Here, we identify the E3 ubiquitin ligase RNF126 as a hypoxia-inducible "peroxisomal fate" switch that links the hypoxic microenvironment to loss of hepatocyte differentiation. Under hypoxia, HIF-2α drives RNF126 expression, which in turn ubiquitinates the peroxisomal membrane transporter ABCD3, triggering selective peroxisome autophagy (pexophagy) and depletion of peroxisomes. This organelle loss ablates very-long-chain fatty acid β-oxidation and hydrogen peroxide detoxification, erasing key hepatocyte differentiation features. We show that genetic RNF126 ablation restores peroxisomal functions and impairs hypoxic HCC growth. Leveraging these insights, we developed a small-molecule RNF126 inhibitor, D665-1412, which selectively blocks hypoxia-induced pexophagy. D665-1412 treatment stabilizes peroxisomes, normalizes lipid metabolism, and reactivates hepatocytic differentiation markers, thereby "redifferentiating" HCC cells and suppressing tumor progression in vitro and in vivo. Our findings establish the HIF-2α-RNF126-ABCD3 axis as a driver of HCC dedifferentiation and present organelle-targeted redifferentiation therapy as a promising approach for liver cancer. - Source: PubMed
Publication date: 2026/06/09
Su QiYang YichunRen JiayanZhang YuFu LijuanWu QingHan XuZhang Yanmin - High ammonia nitrogen stress significantly compromises the survival of under low-salinity conditions. However, existing studies predominantly focus on ammonia nitrogen responses under single stressors or normal seawater salinity. The molecular regulatory mechanisms, metabolic remodeling patterns, and key pathway interactions in shrimp subjected to high ammonia nitrogen stress under low-salinity environment remain unclear. In this study, we employed integrated transcriptomic and metabolomic analyses to unveil the underlying molecular responses and metabolic biomarkers in the gills of to ammonia stress under low-salinity conditions. First, . underwent low-salinity acclimation from 30‱ to 5‱ salinity and was then reared for one week to acclimate to the experimental environment. Subsequently, shrimp were treated with 42.32 mg/L ammonia nitrogen for a consecutive 96 h period. Integrated transcriptomic and metabolomic analyses elucidated the stress response patterns in the gills of under low-salinity ammonia nitrogen exposure. Specifically, 352, 802, and 140 differentially expressed genes (DEGs) were identified at 12 h, 48 h, and 96 h post-exposure, respectively. GO and KEGG enrichment analyses revealed that the significant DEGs were primarily enriched in six major pathways: autophagy, immune-related pathway, ABC transporter, fatty acid degradation and metabolism, metabolic pathway, and PPAR signaling pathway. Metabolomic profiling identified numerous differentially accumulated metabolites (DAMs) in both positive and negative ion modes, with significantly altered DAMs mainly consisting of organic acids and their derivatives, phospholipids, and other related metabolites. Key DAMs included taurine, guanosine, 1-palmitoyl-sn-glycero-3-phosphocholine, pseudouridine, and betaine. Integrative multi-omics analysis revealed that mediates stress responses by modulating five core pathways under low-salinity/high-ammonia-nitrogen dual stress: fatty acid degradation and metabolism (e.g., acyl-CoA dehydrogenase short chain (), acetyl-CoA acetyltransferase 2 ()), autophagy (e.g., autophagy-related protein 101-like ()), immune regulation pathway (e.g., V-type proton ATPase subunit H-like (), actin-5C-like ()), metabolic pathway (e.g., molybdopterin synthase catalytic subunit-like (), cytochrome P450 2U1-like ()), and ABC transporter (e.g., ATP-binding cassette sub-family D member 3-like (), ATP-binding cassette sub-family B member 10 ()). Through characterization of these core pathways, this study reveals the fundamental mechanisms by which responds to high ammonia nitrogen stress following low-salinity acclimation, providing a theoretical foundation for estuarine shrimp farming. - Source: PubMed
Publication date: 2026/04/13
Zhao YutongDing YangyangZhou FalinHu XiaojuanYang QibinCao Yucheng - Studies have shown that abnormal mitochondrial function is closely associated with the development and progression of colorectal cancer (CRC); however, prognostic models based on mitochondria-related genes are still lacking. We systematically analyzed the expression of mitochondrial-related genes in CRC patients and constructed and validated a mitochondrial gene risk prognostic model using various bioinformatics methods across the TCGA and GEO databases. We also investigated the effects of tumor microenvironment, immune cell infiltration, tumor mutation load, and drug sensitivity on patient prognosis. In addition, we overexpressed the ABCD3 gene using CRISPR-dCas9 technology and further explored the role of ABCD3 in cell proliferation and apoptosis by protein blotting and flow cytometry. The mitochondrial gene risk model was effective in predicting the prognosis of CRC patients, which showed that the high-risk group was significantly different from the low-risk group in terms of immune cell infiltration. Further analyses revealed a strong association between risk scores and clinicopathological features, immune infiltration, and drug sensitivity. We constructed a prognostic prediction model based on mitochondria-related genes and found that ABCD3 provides a novel biomarker for the individualized treatment of CRC. - Source: PubMed
Publication date: 2026/04/16
Chen ShuyuLi YouyueDing WenboYin YujuanXin XiaoqiWei XueyangBao SiqiPan BeiSun HuilingXu Mu - Oculopharyngodistal myopathy (OPDM) is a group of rare, hereditary myopathies characterized by ptosis, external ophthalmoplegia, facial, pharyngeal and distal limb weakness and classically with rimmed vacuoles and intranuclear inclusions on muscle biopsy. Heterozygous CCG-CGG repeat expansions in the 5' UTR of six genes are known to cause OPDM, only one of which ( ) has been reported in individuals of European ancestry. Here, we identify heterozygous CCG expansions in , ranging from 87-134 repeats, in three unrelated families of European and mixed African European descent, establishing as a new OPDM gene. Using integrated long-read and short-read sequencing technologies and large population datasets, we define the structure of the tandem repeat and show that this locus is strikingly variable in the control population - a recently recognized hallmark of pathogenic repeat loci. We furthermore investigate epigenetic regulation and repeat length variability at the repeat locus, demonstrating CCG repeat methylation as plausible mechanism for the observed non-penetrance in one unapected individual carrying a large repeat expansion, while in apected patients the repeat is unmethylated. Patient-derived fibroblasts show increased expression, and p62-positive intranuclear inclusions are observed on muscle biopsy, supporting a dominant toxic gain-of-function mechanism analogous to other CCG-expansion disorders. This study expands the known genetic architecture of OPDM and distal myopathies in general and reinforces the emerging paradigm in which the sequence motif and genomic context of repeat expansions, rather than gene function alone, are key drivers of disease. The identification of as a repeat-expansion myopathy gene further highlights the need for systematic interrogation of noncoding repeat loci in unresolved neuromuscular disease cohorts. - Source: PubMed
Publication date: 2026/04/01
Van de Vondel LiedeweiCurro RiccardoFacchini StefanoXu Isaac R LDe Winter JonathanQuartesan IlariaMonticelli AliceAlonso-Jimenez AliciaDe Ridder WillemBertini AlessandroAlves GustavoPizzuto FrancescaUgolini HermionePellerin DavidDe Pooter TimMerve AshirwadMachado Pedro Sagath LydiaNeveling KorneliaHoischen AlexanderHanna Michael GPitceathly Robert D SHoulden HenryTucci AriannaBugiardini EnricoBrady StefenRoberts MarkDanzi Matt CZüchner StephanBaets JonathanCortese Andrea - Peroxisomes are dynamic organelles essential for lipid metabolism, oxidative balance, and cellular stress responses. Their dysfunction contributes to various diseases, including metabolic and neurodegenerative disorders. Selective autophagy, or pexophagy, preserves peroxisomal quality by removing damaged or excess peroxisomes. Here, we propose a novel ATM-PINK1-STUB1-ABCD3-SQSTM1 signaling cascade that orchestrates pexophagy in response to peroxisomal impairment. Through siRNA screening, we find that PINK1 is a key regulator of pexophagy induced by PEX13 depletion. PINK1 phosphorylates STUB1, enhancing its E3 ligase activity to ubiquitinate ABCD3, which in turn recruits SQSTM1 for peroxisomal degradation. We further identify that ATM activates PINK1 under peroxisomal stress, linking cellular stress signaling to organelle quality control. These findings provide new insights into the molecular mechanisms underlying peroxisome turnover and may have implications for therapeutic strategies targeting diseases related to peroxisomal dysfunction. - Source: PubMed
Publication date: 2026/04/02
Jo Doo SinPark Na YeonKim Ae-KyeongBang SunhoeKim Yong HwanBae Ji-EunNoh KyungheeKim Jeong-HoonLee Min JaeChoe Seong-KyuKim Peter KChung JongkyeongLee Kyu-SunCho Dong-Hyung