2024年12月25日 · GLB1 (Galactosidase Beta 1) is a Protein Coding gene. Diseases associated with GLB1 include Mucopolysaccharidosis, Type Ivb and Gm1-Gangliosidosis, Type I. Among …

Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene. [5] [6] The GLB1 protein is a beta-galactosidase that cleaves the terminal beta …

2013年10月17日 · The diagnosis of a GLB1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic (or likely pathogenic) …

The GLB1 gene provides instructions for producing two different proteins. The primary protein produced from the GLB1 gene is an enzyme called beta-galactosidase (β-galactosidase). This …

2025年2月8日 · This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a …

2021年10月14日 · The GLB1 gene encodes beta-galactosidase-1 (EC 3.2.1.23), a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates and other …

A novel mutation p.E186A is identified in GLB1 gene. The activity of serum GAL was significantly higher in colon cancer patients with a history of alcohol and nicotine dependence. beta …

2016年9月14日 · The GLB1 gene provides instructions for producing two different proteins. The primary protein produced from the GLB1 gene is an enzyme called beta-galactosidase (β …

2021年4月22日 · Diagnosis/testing: The diagnosis of a GLB1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic (or likely …

编码的蛋白质是一种溶酶体酶，催化乳糖、神经节苷脂GM1和其他糖蛋白等底物的末端β-D-半乳糖残基的水解。 人类基因的突变与GM1神经节脂沉积症和Morquio B综合症相关。 小鼠基因的 …