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- Bioss
- bs-20477P
- 2025年10月16日
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- 详细信息
- 技术资料
- 规格：
500ug
| 产品编号 | bs-20477P |
| 英文名称 | GALC Antibody Blocking Peptide |
| 中文名称 | 半乳糖神经酰胺酶封闭多肽 |
| 英文别名 | Gacy; Galactocerebrosidase; Galactocerebroside beta galactosidase; Galactosylceramide beta galactosidase; galactosylceraminidase; Galc; GALCERase; Twitcher; GALC_HUMAN. |
| 纯化方法 | HPLC |
| 研究领域 | Cardiovascular > Lipids / Lipoproteins > Lipid Metabolism > Hydrolysis Metabolism > Pathways and Processes > Metabolic signaling pathways > Lipid and lipoprotein metabolism > Hydrolysis Neuroscience > Neurology process > Neurodegenerative disease Signal Transduction > Metabolism > Lipid metabolism |
| 亚细胞定位 | Lysosomal. |
| 组织特异性 | Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine. |
| 相似性 | Belongs to the glycosyl hydrolase 59 family. |
| 功能 | Galactosylceramidase hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. It is an enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. It shows highest level of activity in testes compared to brain, kidney, placenta and liver. It can also be found in urine. Defects in Galactosylceramidase are the cause of globoid cell leukodystrophy (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified. |
| 保存条件 | Shipped at 4℃. Stored at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事项 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| 背景资料 | GALC is a lysosomal enzyme that hydrolyzes galactose ester bonds in various galactolipids, including galactosylceramide, galactosylsphingosine, lactosylceramide and monogalactosyldiglyceride. Galactolipids contain glucose and/or galactose, and are found in the brain and other nerve tissue, especially the myelin sheath. Galactosylceramide is a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon. Mutations in the GALC gene that compromise protein function correlate to Krabbe disease (globoid cell leukodystrophy, GLD). GLD is an autosomal recessive condition that affects approximately 1 in 150,000 infants and results in progressive destruction of the nervous system. The “twitcher” mouse is a model system for GLD; the genotype is a premature stop codon (W339X) in the galactosylceramidase (GALC) gene that abolishes enzymatic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. |
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GALC Antibody Blocking Peptide(bs-20477P)-500ug
￥880
