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 …

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 …

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. …

2025年2月8日 · COL18A1 expression increases during human adipogenic differentiation. This genotype, after controlling for cholesterol, LDL cholesterol, and triglycerides, was …

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 …

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 …

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, …

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 …

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 …

Located in basement membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study pigment …