ABCA9
- Known as:
- ABCA9
- Catalog number:
- Y213983
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCA9
Related genes to: ABCA9
- Gene:
- ABCA9 NIH gene
- Name:
- ATP binding cassette subfamily A member 9
- Previous symbol:
- -
- Synonyms:
- EST640918
- Chromosome:
- 17q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-06-11
- Date modifiied:
- 2019-03-21
Related products to: ABCA9
Related articles to: ABCA9
- Paroxysmal atrial tachycardia (PAT) is a supraventricular arrhythmia associated with increased risk of atrial fibrillation (AF) and adverse cardiovascular events, but mechanisms underlying adverse outcomes remain unclear. We integrated serum metabolomics (LC-MS/MS), pathway enrichment, transcriptomic profiling, and in vitro validation in a PAT-onset cohort (five patients and five matched controls) and a PAT-events cohort (10 with and 10 without adverse events). Differential metabolites and pathways were identified, and GSEA focused on ABC transporters and alanine, aspartate, and glutamate metabolism. PAT exhibited metabolic dysregulation enriched in amino-acid metabolism and inflammation. Taurocholic acid was increased in PAT with adverse events and showed strong predictive value. Integrative analyses highlighted ABC transporter and alanine/aspartate/glutamate metabolism pathways. ABCA9 was upregulated, whereas ABCB10 and ABCC6 were downregulated in patient data and tachycardia transcriptomics, and these changes were confirmed in paced HL-1 atrial myocytes. ADSS1, AGXT2, and ASS1 were downregulated, indicating disrupted aspartate-linked metabolism; reduced ABCB10 suggested impaired mitochondrial homeostasis. Overall, PAT is characterized by metabolic remodeling involving ABC transporter dysfunction, amino-acid metabolic impairment, mitochondrial dysfunction, and vascular instability, supporting biomarker-guided risk stratification and targeted intervention. - Source: PubMed
Wang QiuyuLiu LianfengLiu PengLv TingtingWang YifeiLi QingLiu YuanweiZhang Ping - We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2-q24.3 identified by CMA and WGS. Despite differences in the type of rearrangement, all three patients seem to exhibit alterations affecting the genomic architecture of a cluster of genes, particularly involving the ABCA family (notably ABCA5, ABCA6, ABCA9, ABCA10), MAP2K6, and potassium channels (KCNJ16, KCNJ2). These findings suggest that disruption of the local chromatin organization, including topologically associating domains (TADs), may contribute to the pathogenesis of CGHGH. Although previous studies implicated deletions affecting ABCA5 as the likely cause of CGHGH, our findings emphasize a broader spectrum of structural variation capable of producing similar phenotypes. Interestingly, one patient involved a cryptic 1.2 Mb inversion that disrupted the region between ABCA9 and KCNJ2, detectable only by whole genome sequencing, reinforcing the need for advanced molecular diagnostics in patients with syndromic hypertrichosis. In all three individuals, gingival overgrowth co-occurred with typical facial features, coarse hair, and normal cognitive development, adding evidence to the phenotype-genotype correlation. Overall, this study strengthens the hypothesis that disruption of regulatory elements and chromatin architecture at 17q24.2-q24.3, rather than single nucleotide variants alone, can be a primary driver of CGHGH. These findings underscore the need to incorporate genome-wide structural variant analysis in the diagnostic workflow of rare developmental disorders, especially those with heterogeneous or subtle clinical presentations. - Source: PubMed
Publication date: 2026/01/23
Tenorio-Castano JairFeito Martade Lucas RaúlSendagorta ElenaGómez-Fernández CristinaParra AlejandroVallespin ElenaGallego-Zazo NataliaCazalla MarioJiménez-Estrada Juan AMiranda-Alcaraz LuciaMora-Gómez MónicaRodríguez-Canó Manuel JesúsVázquez-Amell ValeriaRamos SergioValle TomásMansilla ElenaSantiago Fe GarcíaGalán-Gómez EnriqueCalpena EduardoRuíz-Pérez Víctor LNevado JuliánLapunzina Pablo - The pig bone weight trait holds significant economic importance in southern China. To expedite the selection of the pig bone weight trait in pig breeding, we conducted molecular genetic research on these specific traits. These traits encompass the bone weight of the scapula (SW), front leg bone weight (including humerus and ulna) (FLBW), hind leg bone weight (including femur and tibia) (HLBW), and spine bone weight (SBW). Up until now, the genetic structure related to these traits has not been thoroughly explored, primarily due to challenges associated with obtaining the phenotype data. In this study, we utilized genome-wide association studies (GWAS) to discern single nucleotide polymorphisms (SNPs) and genes associated with four bone weight traits within a population comprising 571 Duroc × (Landrace × Yorkshire) hybrid pigs (DLY). In the analyses, we employed a mixed linear model, and for the correction of multiple tests, both the false discovery rate and Bonferroni methods were utilized. Following functional annotation, candidate genes were identified based on their proximity to the candidate sites and their association with the bone weight traits. This study represents the inaugural application of GWAS for the identification of SNPs associated with individual bone weight in DLY pigs. Our analysis unveiled 26 SNPs and identified 12 promising candidate genes (, , , , , , , , , , , and ) associated with the four bone weight traits. Furthermore, our findings on the genetic mechanisms influencing pig bone weight offer valuable insights as a reference for the genetic enhancement of pig bone traits. - Source: PubMed
Publication date: 2023/12/21
Gao XinZhou ShenpingLiu ZhihongRuan DonglinWu JieQuan JianpingZheng EnqinYang JieCai GengyuanWu ZhenfangYang Ming - Breast cancer is a genetically heterogeneous disorder associated with dysregulation of several genes. Peroxisome proliferator-activated receptor gamma (PPARγ) is a ligand-dependent transcription factor that is expressed by many tumoral cells such as transformed breast cancer cells. We investigated expressions of nine PPARγ-related lncRNAs, namely KCNIP2-AS1, TRHDE-AS1, FAM13A-AS1, ALDH1A1-AS2, SH3BP5-AS1, HID1-AS1, LINC01140, LIPE-AS1 and ABCA9-AS1 in paired breast cancer samples and non-tumoral tissues. Expression assays showed lower expression levels of TRHDE-AS1, ALDH1L1-AS2, KCNIP2-AS1, ABCA9-AS1, LIPE-AS1 and LINC01140 in tumoral compared with non-tumoral samples. The mentioned genes could differentiate between breast tumors and non-tumoral samples with AUC values ranging from 0.77 to 0.62 for LINC01140 and LIPE-AS1, respectively. The highest specificity and sensitivity values were reported for KCNIP2-AS1 and LINC01140, respectively. Significant correlations were reported between all pairs of genes in both tumoral and non-tumoral tissues. The most robust ones were between ABCA9-AS1 and KCNIP2-AS1 (correlation coefficient=0.85) in non-tumoral tissues and between LIPE-AS1 and TRHDE-AS1 (correlation coefficient=0.83) in tumoral tissues. There was a significant negative association between expression levels of KCNIP2-AS1 gene in tumor tissues and different histological grades. Besides, there was a significant negative association between expression levels of FAM13A-AS1, KCNIP2-AS1and LIPE-AS1 genes in tumor tissues and different mitotic rates. Taken together, PPARγ-related lncRNAs might be regarded as potential contributors to the pathogenesis of breast cancer. - Source: PubMed
Publication date: 2023/10/05
Ghafouri-Fard SoudehNicknam AmirSafarzadeh ArashEslami SolatSamsami MajidJamali Elena - Oxysterols, oxidized derivatives of cholesterol, act in breast cancer (BC) as selective estrogen receptor modulators and affect cholesterol homeostasis, drug transport, nuclear and cell receptors, and other signaling proteins. Using data from three highly overlapping sets of patients (N = 162 in total) with early-stage estrogen-receptor-positive luminal BC-high-coverage targeted DNA sequencing (113 genes), mRNA sequencing, and full micro-RNA (miRNA) transcriptome microarrays-we describe complex oxysterol-related interaction (correlation) networks, with validation in public datasets (n = 538) and 11 databases. The ESR1-CH25H-INSIG1-ABCA9 axis was the most prominent, interconnected through miR-125b-5p, miR-99a-5p, miR-100-5p, miR-143-3p, miR-199b-5p, miR-376a-3p, and miR-376c-3p. Mutations in SC5D, CYP46A1, and its functionally linked gene set were associated with multiple differentially expressed oxysterol-related genes. STARD5 was upregulated in patients with positive lymph node status. High expression of hsa-miR-19b-3p was weakly associated with poor survival. This is the first study of oxysterol-related genes in BC that combines DNA, mRNA, and miRNA multiomics with detailed clinical data. Future studies should provide links between intratumoral oxysterol signaling depicted here, circulating oxysterol levels, and therapy outcomes, enabling eventual clinical exploitation of present findings. - Source: PubMed
Publication date: 2023/08/18
Holý PetrBrynychová VeronikaŠeborová KarolínaHaničinec VojtěchKoževnikovová RenataTrnková MarkétaVrána DavidGatěk JiříKopečková KateřinaMrhalová MarcelaSouček Pavel