|Description||The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]|
|Unit quantity||100 μl|
|Immunogen||Ubiquitin C-terminal hydrolase 1 (UCHL1) has several other names, such as ubiquitin carboxyl esterase L1, ubiquitin thiolesterase, neuron-specific protein PGP9.5 and Park5. It was originally identified as a major component of the neuronal cytoplasm from 2-dimensional gel analysis of brain tissues, and was given the name PGP9.5 (1). The protein is extremely abundant, and was estimated to be present at a concentration of 200-500 micrograms/g wet weight, representing a major protein component of neuronal cytoplasm (1). This has been claimed to represent 1-2% of total brain protein. It was later found that a ubiquitin C-terminal hydrolase enzyme activity was associated with the PGP9.5 protein, resulting in the renaming of PGP9.5 to ubiquitin C-terminal hydrolase 1. This is the first of a family of ubiquitin C-terminal hydrolases which have been characterized, and is expressed heavily in neurons in the brain. The ubiquitin C-terminal hydrolases cleave ubiquitin from other molecules. This activity is important to generate mono-ubiquitin from genes which encode polyubiquitin chains or ubiquitin fused to other proteins. The activity is also important to remove ubiquitin from partially degraded proteins, allowing the ubiquitin monomer to be recycled. Regulation of the ubiquitin pathway is very important and many disease states are associated with defects in this pathway. The covalent ubiquitin conjugates may then be degraded in the proteasome. Point mutations in the UCHL1 gene are associated with some forms of human Parkinson's disease (3). Recent studies suggest that UCHL1 also has a ubiqutinyl ligase activity, being able to couple ubiquitin monomers by linking the C-terminus of one with lysine 63 of the other (3). Since UCHL1 is heavily expressed in neurons, antibodies to UCHL1 can be used to identify neurons in histological sections and in tissue culture. The great abundance of this protein in neurons means that it is released from neurons in large amounts following injury or degeneration, so the detection of of UCHL1 in CSF and other bodily fluids can be used as a biomarker. UCHL1 was also discovered as a gene mutated in some rare famial forms of Parkinson's disease. Park5 was characterized as the gene causative of this form of Parkinson's and on analysis the Park5 gene proved to encode an I93M point mutations in the UCHL1 gene, which reduces the ubiquitin hydrolase activity. Interestingly a common allelic variant of UCHL1, the S18Y polymorphism is actually protective against Parkinson's disease. For a recent excellent review co-authored by the discoverer of UCHL1/Pgp9.5 see reference 4. The HGNC name for this protein is UCHL1.|
|Storage Condition||Store at -20°C/1 year|
|Storage Buffer||PBS, pH 7.4 with 0.02% sodium azide.|
|Guarantee||abm guarantees that all our Anti-UCHL1 Antibody will perform as described on this product webpage, if this is not the case we will provide you with a one-time replacement at no extra cost. Documentation and explanation of experiment conducted will be required when submitting a claim for replacement.|
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