2024年12月24日 · COL18A1 (Collagen Type XVIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome 1 and Glaucoma, Primary Closed-Angle. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

Collagen alpha-1 (XVIII) chain is a protein that in humans is encoded by the COL18A1 gene. [5] This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains.

The COL18A1 gene provides instructions for making a protein that forms collagen XVIII. Three COL18A1 proteins, called alpha 1 subunits, attach to each other to form collagen XVIII. Collagen XVIII is found in the basement membranes of tissues throughout the body.

2025年2月8日 · COL18A1 expression increases during human adipogenic differentiation. This genotype, after controlling for cholesterol, LDL cholesterol, and triglycerides, was independently associated with obesity, and increases the chance of obesity in 2.8 times. VDAC1 plays a vital role in modulating endostatin-induced endothelial cell apoptosis

该基因编码 XVIII 型胶原蛋白的α链。 这种胶原蛋白是一种多重蛋白，一种细胞外基质蛋白，包含多个被非胶原结构域打断的三螺旋结构域 (胶原结构域) 。 该蛋白的一种长同种型具有与卷曲受体的细胞外部分同源的 N 末端结构域。 C 末端结构域中几个内源性切割位点的蛋白水解加工导致内皮抑素的产生，内皮抑素是一种有效的抗血管生成蛋白，能够抑制血管生成和肿瘤生长。 该基因的突变与 Knobloch 综合征有关。 该综合征的主要特征涉及视网膜异常，因此 XVIII 型胶原蛋白 …

col18a1，作为胶原蛋白家族的重要成员，具有独特的分子结构，通过其特定的氨基酸序列在细胞外基质中发挥关键作用。 在功能上，COL18A1不仅参与视网膜的形成和维持，确保视网膜正常功能，还调节内皮细胞的迁移、增殖和粘附等过程，对血管生成、伤口愈合 ...

2017年1月1日 · Mutations in COL18A1 cause Knobloch syndrome with eye and skull defects and, occasionally, other symptoms in various tissues. Collagen XVIII has functions in adipogenesis, inflammation, fibrosis and cancer.

2024年12月10日 · Clinical resource with information about COL18A1, Glaucoma, primary closed-angle, Knobloch syndrome 1, Multiple loci influencing hippocampal degeneration identified by genome scan., and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Using immunohistochemical and expression analyses, Caglayan et al. (2014) identified COL18A1 expression in the pia and blood vessels of the developing human cerebral cortex, supporting a role for COL18A1 in human neurodevelopment.

Located in basement membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study pigment dispersion syndrome. Human ortholog(s) of this gene implicated in primary angle-closure glaucoma. Orthologous to human COL18A1 (collagen type XVIII alpha 1 chain).