人 PGP9.5 抗体对
01AB00110
The UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1 (UCH-L1). This enzyme is found in nerve cells throughout the brain and is involved in the cell machinery that breaks down (degrades) unneeded proteins. Several functions of UCH-L1 have been proposed, including ubiquitin hydrolase activity, ubiquitin ligase activity, and stabilization of the mono-ubiquitin pool. Dysfunction of UCH-L1 has been reported in various neurodegenerative diseases. Specific mutations in the UCHL1 gene, such as I93M and E7A, have been linked to early-onset Parkinson's disease and other neurological disorders, likely due to disruption of the ubiquitin-proteasome system and accumulation of toxic protein aggregates. Overexpression of UCH-L1 has also been shown to affect Alzheimer's disease pathology by regulating amyloid-beta production. Overall, the proper function of UCH-L1 appears crucial for maintaining neuronal health and preventing the development of neurodegenerative diseases.
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技术参数
- 靶点基因名
- UCHL1
- 蛋白别名
- ubiquitin C-terminal hydrolase L1; PGP9.5
- UniProt
- P09936
- 物种
- Human
产品详情
- 靶点名称
- PGP9.5
- 蛋白名称
- ubiquitin C-terminal hydrolase L1
- 蛋白别名
- Ubiquitin carboxyl-terminal hydrolase isozyme L1; UCH-L1; Neuron cytoplasmic protein 9.5; PGP 9.5; PGP9.5; Ubiquitin thioesterase L1
- 靶点基因名
- UCHL1
- UniProt
- P09936
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
The UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1 (UCH-L1). This enzyme is found in nerve cells throughout the brain and is involved in the cell machinery that breaks down (degrades) unneeded proteins. Several functions of UCH-L1 have been proposed, including ubiquitin hydrolase activity, ubiquitin ligase activity, and stabilization of the mono-ubiquitin pool. Dysfunction of UCH-L1 has been reported in various neurodegenerative diseases. Specific mutations in the UCHL1 gene, such as I93M and E7A, have been linked to early-onset Parkinson's disease and other neurological disorders, likely due to disruption of the ubiquitin-proteasome system and accumulation of toxic protein aggregates. Overexpression of UCH-L1 has also been shown to affect Alzheimer's disease pathology by regulating amyloid-beta production. Overall, the proper function of UCH-L1 appears crucial for maintaining neuronal health and preventing the development of neurodegenerative diseases.