ACBD5
- Known as:
- ACBD5
- Catalog number:
- 000991A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACBD5
Related genes to: ACBD5
- Gene:
- ACBD5 NIH gene
- Name:
- acyl-CoA binding domain containing 5
- Previous symbol:
- -
- Synonyms:
- DKFZp434A2417, KIAA1996
- Chromosome:
- 10p12.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-11
- Date modifiied:
- 2014-11-19
Related products to: ACBD5
Related articles to: ACBD5
- Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal recessive disorder that manifests as retinal dystrophy and leukodystrophy. We report five Omani patients with ages ranging between 4 and 30 years. First presentation was in infancy with nystagmus and photophobia and progressed to legal blindness by 10 years of age. Electroretinogram confirmed severe cone-rod dystrophy. Motor neuroregression with variable ages of onset and signs of progressive cerebellar ataxia were seen in all patients, whereas cognitive decline was observed in some. Brain MRI revealed diffuse T2 signal abnormality in deep white matter, with involvement of corticospinal tracts. Plasma long chain fatty acid profile showed mild elevation of C26 and C26/22 ratio. Two homozygous variants in gene were identified; exons 7 and 8 deletion and exon 4 deletion. This series confirms retinal dystrophy and leukodystrophy as key features of ACBD5 deficiency with main symptoms of early onset visual decline, progressive spasticity, and cerebellar ataxia. This case series adds valuable insight in to this ultra-rare neurometabolic disease. - Source: PubMed
Publication date: 2026/03/31
Al Shamsi BushraGanesh AnuradhaHarikrishna BeenaAl Zuhaibi SanaMarkovic IvanaMansy AhmedAl Thihli KhalidAhmad FarazMameesh MahaAl Murshedi Fathiya - Peroxisomes are small, highly dynamic organelles involved in a plethora of metabolic pathways. They are essential for the efficient exchange of metabolites and cellular messengers orchestrating intracellular signaling. Calcium (Ca) is one of the most prominent physiological signaling elements and regulates a wide variety of processes in cellular homeostasis and function. Recently, we showed that peroxisomes participate in cellular Ca dynamics by taking up and releasing Ca following store-operated calcium entry (SOCE), however, the mechanism of peroxisomal Ca uptake and its modulators remained unknown. Using live cell imaging in combination with genetically encoded calcium indicators (GECI), we show that peroxisomal calcium dynamics are independent of PEX11β and the pore protein PXMP2. Instead, we find that the ACBD5-dependent membrane contact site between peroxisomes and the endoplasmic reticulum (ER) is necessary for efficient peroxisomal Ca uptake. Further, we identify the ACBD5-dependent peroxisome-ER contact site as the major factor restricting peroxisome motility within the cell. Microtubules and SOCE stimulation exert smaller and independent effects on peroxisome motility. This work expands the range of known functions of the peroxisome-ER contact site. - Source: PubMed
Publication date: 2026/05/12
Kalinowski JuliaHartmann YelenaLütkemeyer AlexanderThoms Sven - Patients deficient in the peroxisomal membrane protein ACBD5 regularly exhibit a dystrophy of the retina along with decline in visual acuity. Despite the prevalent retinal phenotype, information on the pathogenesis of the retinodystrophy is limited. To gain insight into the cellular, subcellular and molecular alterations occurring in the retina, we analyzed an ACBD5-deficient mouse model by immunofluorescence microscopy, electron microscopy, full-field electroretinography (ffERG) and as well as analytical and spatial mass spectrometry (MS)-based lipidomics techniques. Histological results implied that ACBD5-deficient mice exhibit a moderate degeneration of photoreceptor, bipolar, ganglion and retinal pigment epithelial cells accompanied, however, by a prominent activation of astroglia and microglia. Reduced a- and b-wave amplitudes from ffERG point to a severe functional dysregulation of retinal signal transduction with a focus at the level of the information-processing cell of the inner retina. At the lipidome level, very long-chain polyunsaturated fatty acids (VLC-PUFA) accumulated in phosphatidylcholines from retina homogenates, most likely disrupted by a decline in peroxisome functions. Remarkably, as revealed by MALDI MS imaging, these lipidome changes affected neither the whole retina nor the photoreceptor outer segments (POS), where VLC-PUFAs display the highest concentration in phospholipids of POS membrane discs. In contrast, VLC-PUFAs in ACBD5-deficient mice consistently accumulated in the inner retinal region from the outer (OPL) to inner plexiform layer (IPL). In line with VLC-PUFA-accumulations, photoreceptor ribbon synapses in the OPL showed morphological signs of degeneration on the ultrastructural level. Hence, peroxisomal dysfunction appears to affect cell type-specific lipid homeostasis, thereby disrupting local retinal membrane physiology leading to a severe neuroinflammation of the ACBD5-deficient mouse retina. - Source: PubMed
Publication date: 2025/12/01
Merz JuliaMüller ElisabethDarwisch WardaFairless RichardWang YixinVorwald SilkeDarwisch SharauCurticean E RonaldShao FengWacker IreneSchröder Rasmus RPitzer ClaudiaSchultz Christianvan Klinken Jan-BertVaz Frederic MKratzer FrankSchwarz KathrinOkun Jürgen GFeng YuxiHopf CarstenIslinger Markus - Depression is a heterogeneous psychiatric disorder with limited treatment efficacy, as 30-50% of patients exhibit inadequate responses to conventional monoaminergic antidepressants. Rhein, a bioactive anthraquinone derived from Rheum palmatum, exhibits rapid and sustained antidepressant effects in both acute and chronic social defeat stress (CSDS) mouse models. Using quantitative proteomics on prefrontal cortex (PFC) samples from control, CSDS, Rhein-treated, and imipramine-treated cohorts, we identified differentially expressed proteins that revealed Rhein's multi-target regulatory profile. Functional enrichment and clustering analyses indicated that Rhein predominantly restores dysregulated pathways related to lipid metabolism, ribosomal translation, mitochondrial and endoplasmic reticulum (ER) function, and synaptic plasticity, forming a coherent mechanistic axis underlying its therapeutic effects. Comparative analysis with imipramine-treated mice further highlighted Rhein's distinct capacity to modulate organelle homeostasis and synaptic remodeling with greater breadth. Parallel reaction monitoring (PRM) and Western Blotting validated key proteins involved in mitochondrial functions (BNIP1, PISD, MRPL42, MRPS30, LRBA, IGHM), ER homeostasis (ACBD5, APOA4, RPL14), and synaptic plasticity (HDAC1, FAM3C, SSU72). These molecular findings suggest that Rhein exerts its antidepressant effects by restoring the functional integrity of mitochondria and the ER, thereby reprogramming synaptic plasticity. We inferred that this organelle-centered regulation further reinforces its potent modulation through multiple mechanisms and signaling pathways of synaptic plasticity, enabling Rhein to exert antidepressant effects through a coordinated, multi-layered mechanism. Collectively, our findings provide a systems-level mechanistic framework for Rhein's antidepressant efficacy and support its potential as a multi-pathway natural therapeutic, particularly for metabolic subtypes of depression. - Source: PubMed
Publication date: 2025/11/14
Ge ZiyuYang YangChen PeiKan WeijingLi LeiXu JiyiZhang YiGuo YumengZheng NanZhang WanjunZhang ChenhuiSun SiduoWang TianyiWang GangDu Jing - Very-long-chain fatty acids (VLCFAs) are vital for growth, development, and overall health. Zinc oxide nanoparticles (ZnO NPs), recognized for their high bioavailability and wide use in medicine and nutrition, have an unclear impact on lipid metabolism. This study explores how ZnO NPs impact VLCFA metabolism using yellow catfish (Pelteobagrus fulvidraco) as a model organism. In vivo, 240 yellow catfish were divided into a control group and a group fed 10 mg/kg ZnO NPs diet for 10 weeks. Administration of ZnO NPs significantly increased hepatic VLCFA content, accompanied by elevated triglyceride (TG) and total cholesterol (T-CHO) levels. Additionally, ZnO NPs reduced peroxisomal β-oxidation and peroxisome-ER (Po-ER) contacts. In vitro studies with yellow catfish hepatocytes confirmed these findings and explored the underlying mechanisms. ZnO NPs reduced Po-ER attachment and significantly decreased peroxisomal β-oxidation levels. ZnO NPs markedly decreased the expression and localization of ACBD5, a key protein involved in Po-ER interactions and VLCFA degradation. Overexpression of ACBD5 counteracted these effects, whereas knockdown mimicked them. Further experiments revealed that FOXO3 directly regulates ACBD5 by binding to its promoter. ZnO NPs increased the acetylation level of hepatocytes, inhibited the nuclear entry of FOXO3, and reduced the protein level of SIRT1. SIRT1 directly regulates FOXO3 deacetylation at lysine 243. Overall, ZnO NPs disrupt lipid homeostasis by downregulating ACBD5 via the SIRT1/FOXO3 axis, impairing peroxisomal function and Po-ER contacts. This study highlights the significance of the SIRT1 - FOXO3 - ACBD5 axis in managing VLCFA-related metabolic disorders. - Source: PubMed
Publication date: 2025/07/16
Zhong JunchengLiu XueboWang JiaweiLiu HuamingLiu GengWen XiaoboWu Kun