ubiquitin C-terminal hydrolase L1
अंतिम अद्यतन 17 Jul 2023
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यह UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell machinery that breaks down (degrades) unneeded proteins. In cells, damaged or excess proteins are tagged with molecules called ubiquitin. Ubiquitin serves as a signal to move these unneeded proteins into specialized structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins.
Normal function
यह UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell machinery that breaks down (degrades) unneeded proteins. In cells, damaged or excess proteins are tagged with molecules called ubiquitin. Ubiquitin serves as a signal to move these unneeded proteins into specialized structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins.
Although the exact function of ubiquitin carboxyl-terminal esterase L1 is not fully understood, it appears to have two types of enzyme activity. One of these, called hydrolase activity, removes and recycles ubiquitin molecules from degraded proteins. This recycling step is important to sustain the degradation process. The other enzyme function, known as ligase activity, links together ubiquitin molecules for use in tagging proteins for disposal.
Conditions referring to this gene or chromosome
Other names
MSY1
neuron cytoplastic protein 9.5
PARK5
PGP9.5
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
ubiquitin thiolesterase
UBL1
UCHL-1
UCHL1_HUMAN
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अधिक पठन और संदर्भ
- ubiquitin C-terminal hydrolase L1; MedlinePlus, National Library of Medicine.
- Facheris M, Strain KJ, Lesnick TG, de Andrade M, Bower JH, Ahlskog JE, Cunningham JM, Lincoln S, Farrer MJ, Rocca WA, Maraganore DM. UCHL1 is associated with Parkinson's disease: a case-unaffected sibling and case-unrelated control study. Neurosci Lett. 2005 Jun 10-17;381(1-2):131-4. doi: 10.1016/j.neulet.2005.02.008. Epub 2005 Feb 25.
- Healy DG, Abou-Sleiman PM, Casas JP, Ahmadi KR, Lynch T, Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW. UCHL-1 is not a Parkinson's disease susceptibility gene. Ann Neurol. 2006 Apr;59(4):627-33. doi: 10.1002/ana.20757.
- Hutter CM, Samii A, Factor SA, Nutt JG, Higgins DS, Bird TD, Griffith A, Roberts JW, Leis BC, Montimurro JS, Kay DM, Edwards KL, Payami H, Zabetian CP. Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease. Eur J Neurol. 2008 Feb;15(2):134-9. doi: 10.1111/j.1468-1331.2007.02012.x. Epub 2007 Dec 18.
- Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT Jr. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell. 2002 Oct 18;111(2):209-18. doi: 10.1016/s0092-8674(02)01012-7.
- Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Kruger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA; UCHL1 Global Genetics Consortium. UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol. 2004 Apr;55(4):512-21. doi: 10.1002/ana.20017.
- Ragland M, Hutter C, Zabetian C, Edwards K. Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis. Am J Epidemiol. 2009 Dec 1;170(11):1344-57. doi: 10.1093/aje/kwp288. Epub 2009 Oct 28.
- Tan EK, Puong KY, Fook-Chong S, Chua E, Shen H, Yuen Y, Pavanni R, Wong MC, Puvan K, Zhao Y. Case-control study of UCHL1 S18Y variant in Parkinson's disease. Mov Disord. 2006 Oct;21(10):1765-8. doi: 10.1002/mds.21064.
- Wintermeyer P, Kruger R, Kuhn W, Muller T, Woitalla D, Berg D, Becker G, Leroy E, Polymeropoulos M, Berger K, Przuntek H, Schols L, Epplen JT, Riess O. Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreport. 2000 Jul 14;11(10):2079-82. doi: 10.1097/00001756-200007140-00004.
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