ubiquitin C-terminal hydrolase L1
Última atualização 17 Jul 2023
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A 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
A 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
Related patient information and medicines
Patient information leaflet
Diarreia por ácido biliar
Diarreia por ácido biliar is common, especially in people who are thought to have irritable bowel syndrome. Bile acid diarrhoea may be caused by a problem with the bowel. ... Increased levels indicate bile acid diarrhoea. The National Institute for Health and Care Excellence (NICE) issued guidance in 2021 on the use of SeHCAT to diagnose bile acid.
Patient information leaflet
Neuroblastoma
Neuroblastoma is a cancer affecting developing nerve cells. Neuroblastoma is a rare cancer and most often occurs in children under 5 years old. Neuroblastoma often starts in the tummy (abdomen) but can spread to other parts of the body, especially bones, liver and skin. The treatments for neuroblastoma include surgery, chemotherapy and.
Patient information leaflet
Clostridioides difficile
Infecção com Clostridioides difficile (sometimes just called 'C. diff') most commonly occurs in people who have recently had a course of antibiotics and are in hospital. Symptoms can range from mild diarrhoea to a life-threatening inflammation of the bowel. No treatment may be needed in mild cases except drinking plenty of fluids. It lives.
Patient information leaflet
Insuficiência cardíaca
O mais comum sintomas são: Feeling breathless - this may occur when you exert yourself, when you lie flat, or even wake you when you are asleep. Retaining fluid - most commonly this shows as swollen ankles. It can also cause swelling of your legs, bottom or tummy. Feeling tired. Other symptoms include: Having a cough. Feeling light-headed or.
Patient information leaflet
Doença pulmonar obstrutiva crônica
Doença pulmonar obstrutiva crônica (DPOC) is a long-term condition of the lungs where the flow of air to the lungs is obstructed. Symptoms include cough and breathlessness. Inhalers are commonly used to ease symptoms. Other treatments such as steroids, antibiotics, oxygen, and mucus-thinning (mucolytic) medicines are sometimes prescribed in.
Patient information leaflet
Insuficiência respiratória
Causas de insuficiência respiratória Common causes of type I respiratory failure Chronic obstructive pulmonary disease (COPD). Pneumonia . Pulmonary oedema. Pulmonary fibrosis . Asthma. Pneumothorax . Pulmonary embolism. Pulmonary hypertension (high blood pressure in the blood vessels that supply the lungs). Cyanotic congenital heart disease..
Leitura adicional e referências
- 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.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.