人 GBA3 抗体对
01AB04036
Glucosylceramidase beta 3 (GBA3) is a human gene that encodes a cytosolic enzyme primarily involved in the hydrolysis of various glycosides, including beta-D-glucoside and beta-D-galactoside. This enzyme, classified under glycoside hydrolases, plays a significant role in detoxifying plant glycosides and has notable activity as a neutral glycosylceramidase, suggesting involvement in glucosylceramide metabolism outside lysosomal pathways. GBA3 is characterized as a polymorphic pseudogene due to mutations leading to a truncated protein, particularly the rs358231 variant, which introduces a premature stop codon and results in loss of function. This pseudogenization is thought to be influenced by dietary adaptations among different human populations, reflecting evolutionary changes where the enzyme's physiological role remains partially understood. The gene is located on chromosome 4 and has undergone multiple pseudogenization events across various mammalian lineages, indicating its complex evolutionary history.
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技术参数
- 靶点基因名
- GBA3
- 基因别名
- CBG; CBGL1
- 蛋白别名
- glucosylceramidase beta 3 (gene/pseudogene); GBA3
- UniProt
- Q9H227
- 物种
- Human
产品详情
- 靶点名称
- GBA3
- 蛋白名称
- glucosylceramidase beta 3 (gene/pseudogene)
- 蛋白别名
- Cytosolic beta-glucosidase; Cytosolic beta-glucosidase-like protein 1; Cytosolic galactosylceramidase; Cytosolic glucosylceramidase; Cytosolic glycosylceramidase; Cytosolic GCase; Glucosidase beta acid 3; Glucosylceramidase beta 3; Klotho-related protein; KLrP
- 靶点基因名
- GBA3
- 基因别名
- CBG; CBGL1
- UniProt
- Q9H227
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Glucosylceramidase beta 3 (GBA3) is a human gene that encodes a cytosolic enzyme primarily involved in the hydrolysis of various glycosides, including beta-D-glucoside and beta-D-galactoside. This enzyme, classified under glycoside hydrolases, plays a significant role in detoxifying plant glycosides and has notable activity as a neutral glycosylceramidase, suggesting involvement in glucosylceramide metabolism outside lysosomal pathways. GBA3 is characterized as a polymorphic pseudogene due to mutations leading to a truncated protein, particularly the rs358231 variant, which introduces a premature stop codon and results in loss of function. This pseudogenization is thought to be influenced by dietary adaptations among different human populations, reflecting evolutionary changes where the enzyme's physiological role remains partially understood. The gene is located on chromosome 4 and has undergone multiple pseudogenization events across various mammalian lineages, indicating its complex evolutionary history.