ABCC9
- Known as:
- ABCC9
- Catalog number:
- 000916A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCC9
Related genes to: ABCC9
- Gene:
- ABCC9 NIH gene
- Name:
- ATP binding cassette subfamily C member 9
- Previous symbol:
- -
- Synonyms:
- SUR2, CMD1O
- Chromosome:
- 12p12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-26
- Date modifiied:
- 2019-04-23
Related products to: ABCC9
Related articles to: ABCC9
- Cantú syndrome (CS) comprises a group of rare multisystem and multi-organ diseases characterized by congenital hypertrichosis, facial dysmorphism, cardiomegaly, and skeletal abnormalities, as well as other clinical manifestations. The current understanding of CS is limited. It is easy to misdiagnose it due to its diverse clinical manifestations and a lack of awareness of the condition. Currently, it is thought that this disorder is inherited in an autosomal dominant manner and caused by mutations in the ATP-sensitive potassium (K) channel, which plays a vital role in both cardiovascular diseases and diabetes. There are currently no effective or specific treatments for CS, and there is a lack of research on the mechanisms of and therapy for this disease. Therefore, it is essential to raise awareness and educate people on CS. Herein, we summarize reported knowledge about CS, including its epidemiology, definition, clinical features, diagnosis, and treatment. - Source: PubMed
Publication date: 2026/07/16
He ShuijingHu DanNichols Colin GHuang Yan - : Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in or , which encode subunits of the ATP-sensitive potassium (K) channel. Its characteristic features-generalized hypertrichosis, coarse facial appearance, skeletal abnormalities, and cardiovascular involvement-may be overlooked when other major comorbidities dominate the clinical picture. : A 29-year-old Taiwanese woman, born prematurely and complicated by neonatal hydrocephalus with subdural hemorrhage requiring ventriculoperitoneal shunt placement, had been followed since infancy under a working diagnosis of cerebral palsy with left hemiparesis and borderline-to-mild intellectual disability. Over the ensuing years, additional features gradually emerged, including generalized hypertrichosis with thick scalp and body hair, coarse facial features, bilateral hallux valgus, mild thoracic scoliosis, polycystic ovaries, mild aortic regurgitation, recurrent hemoptysis associated with abnormal pulmonary vasculature, and iron-deficiency anemia. Earlier genetic investigations-including chromosome analysis (46,XX), array comparative genomic hybridization (array-CGH; 2013), and a trio-based next-generation sequencing study performed under a national rare disease research initiative (2019)-were unrevealing. Whole-genome sequencing performed in December 2025 identified a heterozygous variant (NM_020297.4:c.4174A>G, p.(Ile1392Val)), initially classified as a variant of uncertain significance. Parental Sanger sequencing confirmed the variant to be de novo, and reclassification according to ACMG/AMP criteria supported a likely pathogenic interpretation. Re-evaluation of the patient's phenotype demonstrated findings consistent with Cantú syndrome. : This case illustrates how Cantú syndrome may remain unrecognized for years when a prominent neurological comorbidity-perinatally acquired hydrocephalus and presumed cerebral palsy-dominates the clinical narrative. We report a previously undescribed de novo missense variant (c.4174A>G, p.(Ile1392Val)), thereby expanding the mutational spectrum associated with Cantú syndrome. This case also highlights the practical value of resequencing and periodic reanalysis using updated next-generation sequencing platforms in patients with long-standing undiagnosed disease, even after prior negative genetic testing. - Source: PubMed
Publication date: 2026/07/15
Lee Chung-LinChang Ya-HuiChuang Chih-KuangChiu Huei-ChingTu Yuan-RongLo Yun-TingWu Jun-YiLin Hsiang-YuLin Shuan-Pei - - Source: PubMed
Publication date: 2026/07/24
Lee RosieShin So YoungKim Chun SooLee Hee JungByun Jun Chul - Soil heavy metal contamination has emerged as a critical global environmental issue due to industrialization, posing severe threats to human health. Notably, heavy metal pollution and herbicide application frequently coexist in agricultural systems. This study reveals enantiomer-specific effects of the widely used herbicide napropamide (NAP) on plant growth and cadmium (Cd) accumulation in Arabidopsis thaliana. Compared to the control, R-NAP enhanced plant growth while S-NAP exhibited inhibitory effects. Intriguingly, R-NAP treatment increased Cd accumulation by 14 % and 90 % relative to the control and S-NAP, respectively. Furthermore, R-NAP significantly elevated the contents of macronutrients (nitrogen (N), phosphorus (P), potassium (K), calcium (Ca), magnesium (Mg)) and micronutrients (iron (Fe), zinc (Zn)) by 1.05-1.3-fold and 1.25-1.82-fold compared to the control and S-NAP treatments. Mantel test and structural equation modeling (SEM) identified significant correlations between Cd and nutrients (N, P, Fe, Zn), with N and P directly/indirectly influencing Cd accumulation via Fe/Zn regulation. Transcriptomic analysis coupled with cross-domain network modeling uncovered core genes co-regulating nutrient uptake and Cd accumulation, including NRT1.2, NRT1.5, PHT3.2, ABCC9, and YSL6. Molecular docking confirmed strong binding affinities between NAP enantiomers and these transporter proteins. Our findings demonstrate that nutrient uptake dynamics mediate herbicide-induced Cd accumulation, providing novel insights for optimizing herbicide-nutrient management to mitigate crop metal uptake in contaminated farmlands. - Source: PubMed
Publication date: 2025/11/08
Zhu YaxinXie MinghuiCui HaoqiWu RanHuang LukuanWei QingLiu LijuanCai MiaozhenDu Shaoting - The immunosuppressive tumor microenvironment (TME) serves as a central driver of bladder cancer (BCa) progression and prognosis. While its significance is widely acknowledged, the key cellular subsets that mediate this immunosuppressive state and their core regulatory genes remain incompletely understood. Key immunosuppressive cellular subsets and their signature genes were systematically identified using single-cell RNA sequencing (scRNA-seq) data from BCa samples. A prognostic risk model was then constructed via univariate and multivariate Cox regression analyses, based on bulk RNA-seq datasets and the identified signature genes. The role of SUSD2 was further validated in vitro using qRT-PCR, Western blot, immunofluorescence, proliferation, and invasion assays. Compared with adjacent normal tissues, BCa tissues showed significant enrichment of stromal cells (e.g., epithelial cells, fibroblasts). Among these stromal populations, the proportion of myofibroblast-like cancer-associated fibroblasts (myCAFs) was significantly increased in BCa tissues, and high myCAF infiltration was closely associated with poor patient prognosis. Pseudotime trajectory analysis confirmed that fibroblast differentiation in BCa shifts toward a terminal state (State 3), which is predominantly composed of myCAFs. A prognostic model established using myCAF-related signature genes (TMEM74B, ABCC9, FCMR, ALG9, SUSD2, and ETV7) exhibited stable predictive performance in both training and validation cohorts, with SUSD2 identified as a risk-related gene. In vitro experiments revealed that SUSD2 knockdown inhibited myCAF activation and extracellular matrix secretion, thereby attenuating its promotional effects on BCa cell proliferation and invasion. The TGF-β receptor inhibitor SB-431542could reverse the facilitative effects of SUSD2 overexpression on tumor cell proliferation and migration. Our findings identify myCAFs as a core regulatory cellular subset and SUSD2 as a key molecule within the immunosuppressive TME of BCa. Additionally, SUSD2 may trigger the activation of the TGF-β/Smad signaling cascade to induce myCAF activation, thereby accelerating BCa progression. These results provide novel potential targets and a theoretical basis for prognosis assessment and TME-targeted therapy in BCa. - Source: PubMed
Publication date: 2026/06/19
Song WeihangHan GuangyeLi ZhenhuiHu JunlingMa Kuo