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Reviewed May 2012
What is the official name of the UCHL1 gene?
The official name of this gene is “ubiquitin C-terminal hydrolase L1.”
UCHL1 is the gene's official symbol. The UCHL1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the UCHL1 gene?
The 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.
Does the UCHL1 gene share characteristics with other genes?
The UCHL1 gene belongs to a family of genes called PARK (Parkinson disease).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the UCHL1 gene related to health conditions?
Where is the UCHL1 gene located?
Cytogenetic Location: 4p14
Molecular Location on chromosome 4: base pairs 41,256,881 to 41,268,429
The UCHL1 gene is located on the short (p) arm of chromosome 4 at position 14.
More precisely, the UCHL1 gene is located from base pair 41,256,881 to base pair 41,268,429 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about UCHL1?
You and your healthcare professional may find the following resources about UCHL1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the UCHL1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding UCHL1?
acids ; amino acid ; carboxyl ; cell ; degradation ; enzyme ; gene ; hydrolase ; isoleucine ; ligase ; methionine ; mutation ; neuron ; polymorphism ; proteasome ; protein ; serine ; toxic ; tyrosine ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.