Ask about this productRelated genes to: COL8A2 antibody
- Gene:
- COL8A2 NIH gene
- Name:
- collagen type VIII alpha 2 chain
- Previous symbol:
- FECD
- Synonyms:
- PPCD, FECD1, PPCD2
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-16
- Date modifiied:
- 2016-10-05
Related products to: COL8A2 antibody
Related articles to: COL8A2 antibody
- Vasculogenic mimicry (VM) plays vital roles in tumor development that are closely relevant to patient adverse outcomes and chemoresistance. This study aimed to identify a novel VM-associated signature to forecast the prognosis and immunotherapy response of head and neck squamous cell carcinoma (HNSC) patients. - Source: PubMed
Publication date: 2026/04/30
Zhai YujiaGu XinyuHuang DiXue Miaomiao - Fuchs' endothelial corneal dystrophy (FECD) is a progressive corneal disease characterized by loss of corneal endothelial cells (CEnCs), eventually leading to blindness. Though mitochondrial dysfunction remains the central cause for endothelial cell death, its underlying metabolic drivers remain poorly defined. Hence, there is a need to investigate novel therapeutic approaches targeting metabolic dysregulation, rather than relying solely on surgical intervention. This study aims to explore the metabolic dysregulation in FECD and identify plausible novel non-invasive therapeutics. - Source: PubMed
Publication date: 2026/04/28
Nayak DivyaniKannan RamarajD'Souza SharonShivakumar ShivapriyaShetty RohitShetty NarenMalakar DipankarMachiraju PraveenDas DebashishGhosh ArkasubhraDeshpande VrushaliChakrabarty Koushik - The corneal endothelium maintains corneal transparency and vision. Hereditary corneal dystrophies, including macular corneal dystrophy (MCD), Fuchs endothelial corneal dystrophy (FECD), and congenital hereditary endothelial dystrophy (CHED), cause progressive endothelial dysfunction, for which corneal transplantation is currently the main treatment. We evaluate an adeno-associated virus (AAV)-based gene therapy approach in preclinical models of MCD, FECD, and CHED. A refined intracameral injection method enables uniform endothelial transduction without corneal puncture. A single AAV6 administration supports sustained transgene expression in the corneal endothelium for over 18 months without detectable adverse immune responses. In MCD mice, AAV6-Chst5 reduces corneal opacification and restores keratan sulfate levels. In FECD mice, AAV6-Col8a2 prevents corneal opacity in 87.5% of treated eyes. In the CHED model, AAV6-Slc4a11 resolves corneal edema within 7 days. Single-cell RNA sequencing identifies Wnt5a as a downstream factor associated with MCD pathogenesis. These findings support the therapeutic potential of endothelial-targeted gene delivery for corneal endothelial disorders. - Source: PubMed
Zhang Bi NingQi BenxiangChen ShijiuSu JingLi GuoyunWang XinpingRen ZhongmeiZhang HengruiCheng JunQu JingyuYang YangZhou QingjunCong LinXie Lixin - The corneal endothelium is a monolayer of specialized cells that maintains stromal deturgescence and transparency, functions essential for vision. Despite its clinical importance, the developmental origins and homeostatic programs of the endothelium remain poorly understood, in part due to the lack of a lineage-specific genetic driver. To overcome this limitation, we generated a Col8a2 knock-in mouse line that enables selective genetic manipulations of corneal endothelial cells. Cre activity was validated with reporter alleles and functional importance was assessed by conditional ablation of Col8a2 cells in adulthood, with phenotypic outcomes evaluated by histology, immunofluorescence, and in vivo imaging. We found that Col8a2 drives robust and specific recombination in corneal endothelial cells. Functional assays demonstrated that Col8a2 cells contribute continuously to Descemet's membrane synthesis and are essential for maintaining endothelial integrity. Ablation disrupted endothelial density and barrier function, resulting in phenotypes resembling human endothelial dystrophies, including features of Fuchs' endothelial corneal dystrophy and posterior polymorphous corneal dystrophy. These findings identify Col8a2 cells as indispensable regulators of endothelial development, homeostasis, and disease pathogenesis. The Col8a2 line provides the first corneal endothelium-specific genetic driver, establishing a platform for mechanistic investigation and therapeutic discovery in endothelial disorders. - Source: PubMed
Yuan YongHolt JosiahLorry SamuelWang Yen-ChiaoHu Yueh-ChiangMa ZhixingKaufman AdamKao WinstonOgando Diego GLiu Chia-Yang - Type VIII collagen, a member of the short-chain collagen family, plays essential roles in structural support, functional regulation, and mechanobiology across multiple organ systems. Although early studies suggested ubiquitous expression, emerging single-cell transcriptomic and proteomic analyses have refined this view, demonstrating selective enrichment in corneal endothelial cells, vascular smooth muscle cells, activated fibroblasts, and tumor-associated extracellular matrix (ECM) compartments. These findings establish type VIII collagen as both a structural constituent of the ECM and a dynamic regulator of cell behavior. Functionally, type VIII collagen is critical for endothelial cell stability, angiogenesis, ECM remodeling, and mechanosignaling. Dysregulation of and is implicated in a broad spectrum of disorders, including vascular remodeling, tissue fibrosis, diabetic nephropathy, cancer progression, and corneal endothelial dystrophies. With growing mechanistic insight, translational applications are rapidly expanding. Current directions include gene-editing strategies targeting for Fuchs' endothelial corneal dystrophy, RNA-based approaches to dissect and regulation in fibrotic and vascular disease, and the development of biomaterials incorporating type VIII collagen-derived motifs to promote endothelial repair and guide angiogenesis. Moreover, its restricted expression profile supports its potential utility as a diagnostic and prognostic biomarker. Collectively, these advances position type VIII collagen as a multifunctional ECM regulator with substantial promise for disease diagnostics, therapeutic innovation, and biomaterial engineering. - Source: PubMed
Publication date: 2026/01/20
Shi HaiyanYu YufengGuo KaixuanHe Rongli