人 ARSA 抗体对
01AB02630
Arylsulfatase A (ARSA) is a lysosomal enzyme responsible for the hydrolysis of cerebroside 3-sulfate into cerebroside and sulfate, a critical step in glycosphingolipid catabolism. This activity is essential for maintaining the integrity of myelin within the nervous system. Structurally, ARSA requires the post-translational oxidation of an active-site cysteine to formylglycine for catalytic function and coordinates a divalent metal ion to facilitate sulfate ester hydrolysis. Beyond its lysosomal role, ARSA participates in lipid metabolism and sperm-egg binding. Pathogenic loss-of-function variants in the ARSA gene lead to metachromatic leukodystrophy, an autosomal recessive lysosomal storage disorder characterized by sulfatide accumulation, progressive demyelination, and severe neurological decline.
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技术参数
- 靶点基因名
- ARSA
- 蛋白别名
- arylsulfatase A; ARSA
- UniProt
- P15289
- 物种
- Human
产品详情
- 靶点名称
- ARSA
- 蛋白名称
- arylsulfatase A
- 蛋白别名
- Arylsulfatase A; ASA; Cerebroside-sulfatase) [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]
- 靶点基因名
- ARSA
- UniProt
- P15289
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Arylsulfatase A (ARSA) is a lysosomal enzyme responsible for the hydrolysis of cerebroside 3-sulfate into cerebroside and sulfate, a critical step in glycosphingolipid catabolism. This activity is essential for maintaining the integrity of myelin within the nervous system. Structurally, ARSA requires the post-translational oxidation of an active-site cysteine to formylglycine for catalytic function and coordinates a divalent metal ion to facilitate sulfate ester hydrolysis. Beyond its lysosomal role, ARSA participates in lipid metabolism and sperm-egg binding. Pathogenic loss-of-function variants in the ARSA gene lead to metachromatic leukodystrophy, an autosomal recessive lysosomal storage disorder characterized by sulfatide accumulation, progressive demyelination, and severe neurological decline.