ABCC4
- Known as:
- ABCC4
- Catalog number:
- 000910A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCC4
Related genes to: ABCC4
- Gene:
- ABCC4 NIH gene
- Name:
- ATP binding cassette subfamily C member 4
- Previous symbol:
- -
- Synonyms:
- MRP4, EST170205, MOAT-B, MOATB
- Chromosome:
- 13q32.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-26
- Date modifiied:
- 2019-04-23
Related products to: ABCC4
Related articles to: ABCC4
- Primary open-angle glaucoma (POAG) is a complex multifactorial optic neuropathy involving genetic, vascular, oxidative, inflammatory, and neurodegenerative mechanisms. Despite advances in genome-wide studies, the contribution of genetic variants remains incompletely characterized in underrepresented Latin American populations. This study aimed to characterize the genetic landscape of POAG in a Colombian cohort by identifying previously reported glaucoma-associated variants, rare candidate variants, and pharmacogenomic markers and integrating these findings into biologically relevant pathways. - Source: PubMed
Publication date: 2026/08/04
Casanova CarlosValencia-Peña ClaudiaSaldarriaga-Gil WilmarLozano-Cruz EdgarCastillo Andrés - Rapid running and jumping are core components of escape responses in prey animals and provide measurable traits for studying locomotor performance in large mammals. The genetic basis of these escape-related locomotor traits remains poorly understood in large mammals, partly because repeated, standardized phenotyping under field conditions is challenging. Here, we leveraged a sheep population carrying argali-introgressed genetic components to map genetic variations associated with running speed and jumping height. Through controlled field experiments, automated high-resolution phenotyping, whole-genome analysis, and gene-edited mouse models, we identified two loci associated with escape-related locomotor traits: one in ABCC4 (Chr10:71,849,347; p = 5.03 × 10) linked to maximum running speed and another in GRID2 (Chr6:32,120,477; p = 1.30 × 10) associated with jumping height. Functional assays in knockout mice reveal that disruption of Grid2 reduces jumping ability, whereas Abcc4 knockout and knockdown increase running speed through enhanced heart contractility under stress. These results elucidated the genetic bases of wild-derived variations in affecting locomotor performance. - Source: PubMed
Publication date: 2026/08/17
Huang Jia-HuiYang JiZhong Hai-AnXu Song-SongJia Shan-GangLuo Ling-YunOrlando LudovicLi Meng-Hua - High-altitude environments, characterized by hypoxia, intense ultraviolet radiation, and low temperatures, pose major challenges to livestock survival. In recent years, researchers have gradually uncovered adaptive mechanisms in livestock across different altitudes using whole-genome resequencing. Previous studies of goat altitude adaptation have been limited by small breed numbers and low sequencing depth, hindering comprehensive exploration of adaptive mechanisms across different altitudes. This study analyzed whole-genome resequencing data from 151 individuals across 17 goat breeds representing three distinct altitude gradients (high, middle, and low). Using both SNPs and structural variations (SVs), we characterized population relationships, gene flow, and the SV landscape, including QTL-SV associations and transposable element interactions. Selective sweep analyses using F, θπ ratio, XP-CLR, XP-EHH, and LFMM identified several candidate genes associated with altitude adaptation, including , , , and , which were significantly enriched in pathways related to hypoxia response, oxidative stress, energy metabolism, angiogenesis, and nervous system regulation. Notably, showed ABCC4 showed recurrent candidate selection signals in both SNP and SV analyses, suggesting its potential involvement in altitude adaptation. These findings provide multi-level genomic evidence for goat adaptation to high-altitude stress and provide important insights into the adaptive evolution of goats. - Source: PubMed
Publication date: 2026/07/13
Li WenzeSu YixinLiu CanLin XiaokunXue ShanhuiBadaoui BouabidYan XiaochunLv QiSu Rui - Brain microvascular endothelial cells (BMECs) form the blood-brain barrier (BBB), a highly selective interface that restricts paracellular diffusion and regulates the transport of nutrients and drugs into the central nervous system via specialized transporters and receptors. Tight junction-associated protein 1 (Tjap1), also termed protein incorporated later into tight junctions (Pilt), has been localized to tight junctions (TJs) in epithelial cells and to the trans-Golgi network in fibroblasts; however, its expression, subcellular localization, and functional significance in BMECs are still unknown. We characterized Tjap1 subcellular localization in mouse and human BMEC cell lines as well as primary mouse BMECs by immunofluorescence with and without pharmacological Golgi disruption by treatment with Brefeldin A, Golgicide A or Pitstop 2. CRISPR/Cas9-mediated Tjap1 knockout cells were generated and examined with regard to their Golgi morphology using immunostaining. Tjap1 mRNA localization was examined by RNAscope in situ hybridization. Quantitative real-time PCR and Western blot was performed to assess the expression of BBB-associated efflux transporters, solute carrier transporters, and cellular receptors in control and Tjap1 knockout cells. Tjap1 predominantly localized to the cis-Golgi compartment, co-localizing with Gm130 rather than Tgn38, and was absent from TJs in BMECs. Tjap1 knockout induced pronounced Golgi fragmentation BMECs. Importantly, Tjap1 knockout significantly downregulated mRNA-expression of Abcb1a, Abcb1b, Abcc4, Slc2a1, Slc7a1, Slc7a5 and Tfrc, while Abcg2 was upregulated. At the protein level, a decrease in the protein levels of Abcb1, Abcc4, Slc2a1, Slc7a1, and Tfrc was observed in Tjap1 knockout cEND cells. In BMECs, Tjap1 is a cis-Golgi-associated protein required for the structural integrity of the Golgi apparatus. Its deletion is associated with Golgi fragmentation and significant alterations in the mRNA and protein expression of drug transporters and receptors at the BBB. These findings identify Tjap1 as a candidate regulator of both Golgi architecture and the BBB transporter profile in vitro, with potential implications for modulating drug transport across the BBB. - Source: PubMed
Publication date: 2026/05/28
Mi JunqiaoSchoder AnnabelleSun AiliMeybohm PatrickBurek Malgorzata - Copy number variation (CNV) is an important class of structural variations (SVs) that contribute to phenotypic diversity and environmental adaptation in animals. However, large-scale population-level analyses of CNVs in goats remain limited. This study aimed to comprehensively characterize CNVs and explore their potential roles in economically important traits in Chinese goat populations. - Source: PubMed
Publication date: 2026/05/30
Li WenzeSu YixinLiu CanYan XiaochunLv QiSu Rui