Mouse polyclonal to CCDC115, Host Mouse
- Known as:
- Mouse pab CCDC115, Host Mouse
- Catalog number:
- YF-PA26724
- Product Quantity:
- 50 uL
- Category:
- -
- Supplier:
- Abfron
- Gene target:
- Mouse polyclonal CCDC115 Host
Related genes to: Mouse polyclonal to CCDC115, Host Mouse
- Gene:
- CCDC115 NIH gene
- Name:
- coiled-coil domain containing 115
- Previous symbol:
- -
- Synonyms:
- MGC12981, FLJ30131, ccp1
- Chromosome:
- 2q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-03
- Date modifiied:
- 2016-07-25
Related products to: Mouse polyclonal to CCDC115, Host Mouse
Related articles to: Mouse polyclonal to CCDC115, Host Mouse
- Osteosarcoma (OS) is a malignant primary bone tumor developing from primitive mesenchymal cells. Glycosylation is important in the adhesion, metastasis and transformation of cancer cells. Nevertheless, the investigation of glycosylation-related genes (GRGs) in OS has been infrequently described. - Source: PubMed
Publication date: 2026/03/12
Ding NingLi JinlongShi SongboWang JizuDing YinliangYang Qingshan - - Source: PubMed
Publication date: 2025/12/23
Liu YupengLam ChristinaPoskanzer SheriThies JennyStevens HollyZhang WenyueMorava EvaHe Miao - Immune checkpoint blockade (ICB) therapies targeting the programmed cell death 1 (PD-1)/PD-1 ligand 1 (PD-L1) axis provide significant clinical benefits across multiple tumor types. Although interferon (IFN)-γ is essential for anti-tumor immunity, sustained IFN-γ signaling in the tumor microenvironment potently upregulates PD-L1 expression in tumor cells and induces profound T cell exhaustion, limiting the efficacy of ICB therapies. Therefore, further investigation into the regulation of IFN-γ-PD-L1 signaling is necessary for the development of more effective therapeutic strategies. Herein, transmembrane protein 199 (TMEM199) is identified as a novel regulator of IFN-γ-driven PD-L1 transcription. Mechanistically, TMEM199 and its important partner coiled-coil domain containing 115 (CCDC115) interact with IFNGR1/2 and facilitate their trafficking to RAB11A-positive recycling endosomes. TMEM199/CCDC115 also recruits transport protein particle (TRAPP) Ⅱ to the recycling endosomes and activates RAB11A, leading to enhanced IFNGR1/2 recycling and downstream PD-L1 upregulation. Collectively, these findings reveal that TMEM199 might be a promising therapeutic target for immunotherapy. - Source: PubMed
Publication date: 2025/11/28
Li TingXie MinerZhang RuhuaZhong JianliangChen ZhenxuanLin JiahuiZou YeziWu YuanzhongKang TiebangZhou Liwen - CCDC115-CDG is a recently described combined N- and O-linked congenital disorder of glycosylation affecting Golgi apparatus homeostasis. To date, only thirteen patients have been reported with this condition. The clinical presentation is characterized by hepatosplenomegaly, elevated serum aminotransferases and alkaline phosphatase, often accompanied by psychomotor delay and hypotonia, hypercholesterolemia and copper metabolism anomalies, features that can mimic Wilson disease. Serum transferrin capillary electrophoresis shows a pattern compatible with abnormal Golgi N-glycosylation. We gathered phenotype descriptions and molecular data from all reported patients to better characterize this condition and explore potential genotype-phenotype correlation. Notably, we observed that homozygosity for the p.Leu31Ser variant is associated with higher serum transaminase levels. We also report the natural history of a patient, as clinical narratives are lacking in the literature for this condition. In summary, our report provides new insights into the natural history and genotype-phenotype correlation of CCDC115-CDG, key elements to focus on in ultra-rare conditions. - Source: PubMed
Publication date: 2025/09/18
Geerts Chloé JAlvarez FernandoGilfix Brian MSchultz Matthew JCampeau Philippe M - Niemann-Pick type C (NPC) disease, caused by NPC1 or NPC2 variants, disrupts cholesterol and glycolipid trafficking, leading to diverse clinical manifestations. To understand the genetic basis of neurological resilience, we analyzed an NPC family with variable phenotypes, identifying loss-of-function variants in CCDC115, SLC4A5, DEPDC5, ETFDH, SNRNP200, and DOCK1 that co-segregated with milder neurological involvement. Using yeast models, we successfully predicted NPC-like severity based on orthologous gene variants. RNA-seq revealed a positive correlation between mitochondrial transcripts and cellular fitness. Modeling NPC in yeast lacking the SLC4A5 ortholog, bor1, enhanced cellular fitness, improved mitochondrial function, and reduced sterol accumulation. Our findings identify potential modifiers and biomarkers of NPC severity, highlighting mitochondrial pathways and SLC4A5 as a therapeutic target. Impact statement Niemann-Pick type C (NPC) disease is a progressive neurovisceral lysosomal storage disorder. Here, we identified genomic modifiers of neurological resilience in an NPC family, with SLC4A5 emerging as a key biomarker and therapeutic target. Additionally, our study highlighted mitochondrial transcripts and metabolites as potential biomarkers of severity. - Source: PubMed
Publication date: 2025/06/12
Las Heras MacarenaSzenfeld BenjamínOlguín ValeriaRubilar Juan CarlosCalderón Juan FranciscoJimenez YanirethZanlungo SilvanaBuratti EmanueleDardis AndreaCubillos Francisco AKlein Andrés D