人 COL18A1 抗体对
01AB02325
Collagen type XVIII alpha 1 chain (COL18A1) is a protein primarily known for its role in the extracellular matrix and involvement in angiogenesis regulation, it forms part of the collagen XVIII structure, which exists in various isoforms, with the proteolytically cleaved C-terminal fragment known as endostatin exhibiting potent anti-angiogenic properties. This protein is crucial for maintaining the integrity of basement membranes, particularly in the eye, where it supports retinal structure and neural tube closure. Dysregulation or mutations in the COL18A1 gene are linked to several diseases, most notably Knobloch syndrome, characterized by severe retinal abnormalities and occipital encephalocele. Other conditions associated with COL18A1 mutations include glaucoma and primary closed-angle glaucoma, where its altered expression impacts retinal health.
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技术参数
- 靶点基因名
- COL18A1
- 蛋白别名
- collagen type XVIII alpha 1 chain; COL18A1
- UniProt
- P39060
- 物种
- Human
产品详情
- 靶点名称
- COL18A1
- 蛋白名称
- collagen type XVIII alpha 1 chain
- 蛋白别名
- Collagen alpha-1(XVIII) chain [Cleaved into: Endostatin; Non-collagenous domain 1; NC1]
- 靶点基因名
- COL18A1
- UniProt
- P39060
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Collagen type XVIII alpha 1 chain (COL18A1) is a protein primarily known for its role in the extracellular matrix and involvement in angiogenesis regulation, it forms part of the collagen XVIII structure, which exists in various isoforms, with the proteolytically cleaved C-terminal fragment known as endostatin exhibiting potent anti-angiogenic properties. This protein is crucial for maintaining the integrity of basement membranes, particularly in the eye, where it supports retinal structure and neural tube closure. Dysregulation or mutations in the COL18A1 gene are linked to several diseases, most notably Knobloch syndrome, characterized by severe retinal abnormalities and occipital encephalocele. Other conditions associated with COL18A1 mutations include glaucoma and primary closed-angle glaucoma, where its altered expression impacts retinal health.