Ask about this productRelated genes to: OSBPL9 Blocking Peptide
- Gene:
- OSBPL9 NIH gene
- Name:
- oxysterol binding protein like 9
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1p32.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-09-28
- Date modifiied:
- 2016-04-25
Related products to: OSBPL9 Blocking Peptide
Related articles to: OSBPL9 Blocking Peptide
- Acute pancreatitis (AP) is characterized by the abnormal activation of pancreatic enzymes due to various causes, leading to local pancreatic inflammation. This can trigger systemic inflammatory response syndrome and multi-organ dysfunction. Hyperlipidemia, mainly resulting from lipid metabolism disorders and elevated triglyceride levels, is a major etiological factor in AP. This study aims to investigate the role of lipid metabolism-related genes in the pathogenesis of AP and to propose novel strategies for its prevention and treatment. We obtained AP-related datasets GSE3644, GSE65146, and GSE121038 from the GEO database. Differentially expressed genes (DEGs) were identified using DEG analysis and gene set enrichment analysis (GSEA). To identify core lipid metabolism genes in AP, we performed least absolute shrinkage and selection operator (LASSO) regression and support vector machine recursive feature elimination (SVM-RFE) analysis. Gene and protein interactions were predicted using GeneMANIA and AlphaFold. Finally, biomarker expression levels were quantified using Real-Time quantitative Polymerase Chain Reaction (RT-qPCR) in an AP mouse model. Seven lipid metabolism-related genes were identified as key biomarkers in AP: , , , , , , and . The biological roles of these genes mainly involve fatty acid metabolism, cholesterol metabolism, lipid transport across cellular membranes, and mitochondrial function. , , , , , , and are characteristic biomarkers of lipid metabolism abnormalities in AP. These findings are crucial for a deeper understanding of lipid metabolism pathways in AP and for the early implementation of preventive clinical measures, such as the control of blood lipid levels. - Source: PubMed
Publication date: 2025/08/31
Zhang LiangJiang YujieJin TaojunZheng MingxianYap YixuanMin XuanyangChen JiayueYuan LinHe FengZhou Bingduo - Oxysterol-binding protein-like protein 9 () is a member of a large eukaryotic gene lipid transport protein family that mediates the exchange of sterols and phospholipids between the trans-Golgi network and the endoplasmic reticulum. Denovo missense mutations in the gene have been previously reported to be associated with intellectual disability. Herein, we report for the first time, to the best of our knowledge, a novel homozygous nonsense variant in the gene in a consanguineous family with two fetuses with cerebral ventriculomegaly, cerebellar hypoplasia, and arthrogryposis multiplex. Whole exome sequencing and homozygosity mapping by chromosomal microarray identified one fetus to be homozygous for a novel nonsense variant chr1-51760720C>CAAT or c.615_616insTAA or p.Pro206*. Exome sequencing identified the asymptomatic parents as carriers for the same variant, indicating an autosomal recessive inheritance pattern. A review of medical literature using databases such as PubMed/MEDLINE (Medical Literature Analysis and Retrieval System Online), and Google Scholar did not reveal any case with the variant and fetal malformations such as ventriculomegaly, cerebellar hypoplasia, and arthrogryposis multiplex. A protein network analysis using the STRING (Search Tool for Retrieval of Interacting Genes/Proteins) database showed close interactions between the and genes but no interactions with the and genes. These proteins are important for the metabolism of sphingomyelin, sterol, and lipids such as phosphatidylinositol and ceramide in the cell. Mutations in these proteins are known to cause related genetic disorders, which include structural brain abnormalities, fetal arthrogryposis, and intellectual disability as a phenotype. This is the first known report of a homozygous variant in the gene in a recessive inheritance pattern, and the first report of association with a fetal anomaly phenotype. Previously, only two cases with an gene variant have been documented in the literature, showing a sporadic autosomal dominant inheritance pattern. Thus, this case report expands the phenotype of gene-related human disease. This case report will aid clinical diagnosis, genetic counseling, and preventive strategies such as prenatal diagnosis and/or preimplantation genetic diagnosis in families affected with gene variants. The limitation of this study is the lack of RNA, protein, cellular, or animal model studies or functional studies to confirm this association. - Source: PubMed
Publication date: 2025/03/04
Tamhankar Parag MKachhadiya TusharTamhankar VasundharaMenon Pramila GVaniawala ShalinMithbawkar Shilpa M - Neuroblastoma (NB) is a prevalent extracranial solid tumor in pediatric patients. Of these, the MYCN-amplified type has a poor treatment response and prognosis. To enhance therapeutic efficacy and prognostic outcomes, numerous research teams have undertaken extensive investigations through various pathways and directions. Among these, ferroptosis has recently emerged as a significant area of research focus.Ferroptosis, a type of iron-dependent cell death, is primarily caused by lipid peroxides. This study intends to develop a prognosis model based on MYCN-amplified NB and ferroptosis-related genes (FGs). - Source: PubMed
Publication date: 2025/03/19
Tan LinjunHe GuoqianShen ChengqiHe SijiaChen YanGuo Xia - Ferroptosis, a recently discovered iron-dependent cell death, is linked to various diseases but its role in endometriosis is still not fully understood. - Source: PubMed
Publication date: 2025/01/13
Liu LushaHan FeifeiDu NaiyiLiu YakunDuan AihongKang ShanLi Bin - Langerhans cell sarcoma (LCS), a rare malignant neoplasm in the general category of myeloid neoplasms characterized by overtly malignant Langerhans cells (LC) with conspicuous mitotic activity including atypical forms. Although most cases occur in adults, rare examples of LCS have been reported in children with variable clinical outcome. We present 2 childhood cases of Langerhans cell neoplasm with high grade sarcomatous features and fusion and BRAF V600E mutation. - Source: PubMed
Publication date: 2024/09/28
Sirotnikov SamDehner Louis PVelázquez Vega José ECheng Jinjun