人 GLB1 抗体对
01AB00832
Galactosidase beta 1 (GLB1) is a lysosomal enzyme encoded by the GLB1 gene, primarily responsible for breaking down GM1 gangliosides and keratan sulfate, which are critical for neuronal function and connective tissue integrity. It cleaves terminal β-galactose residues from glycoconjugates, enabling cellular recycling processes. Additionally, GLB1 encodes the elastin-binding protein, which forms part of the elastin receptor complex involved in elastic fiber assembly in connective tissues. This dual functionality underscores its importance in both metabolic and structural cellular roles. Mutations in GLB1 can lead to lysosomal storage disorders such as GM1 gangliosidosis and Morquio syndrome type B. These conditions result from impaired enzymatic activity, causing toxic accumulation of substrates like GM1 gangliosides, leading to neurodegeneration, skeletal abnormalities, and other systemic symptoms.
| 规格 | 起售价 |
|---|---|
| 登录后可查看 | |
技术参数
- 靶点基因名
- GLB1
- 基因别名
- ELNR1
- 蛋白别名
- galactosidase beta 1; GLB1
- UniProt
- P16278
- 物种
- Human
产品详情
- 靶点名称
- GLB1
- 蛋白名称
- galactosidase beta 1
- 蛋白别名
- Beta-galactosidase; Acid beta-galactosidase; Lactase; Elastin receptor 1
- 靶点基因名
- GLB1
- 基因别名
- ELNR1
- UniProt
- P16278
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Galactosidase beta 1 (GLB1) is a lysosomal enzyme encoded by the GLB1 gene, primarily responsible for breaking down GM1 gangliosides and keratan sulfate, which are critical for neuronal function and connective tissue integrity. It cleaves terminal β-galactose residues from glycoconjugates, enabling cellular recycling processes. Additionally, GLB1 encodes the elastin-binding protein, which forms part of the elastin receptor complex involved in elastic fiber assembly in connective tissues. This dual functionality underscores its importance in both metabolic and structural cellular roles. Mutations in GLB1 can lead to lysosomal storage disorders such as GM1 gangliosidosis and Morquio syndrome type B. These conditions result from impaired enzymatic activity, causing toxic accumulation of substrates like GM1 gangliosides, leading to neurodegeneration, skeletal abnormalities, and other systemic symptoms.