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Reviewed July 2009
What is the official name of the NHLRC1 gene?
The official name of this gene is “NHL repeat containing E3 ubiquitin protein ligase 1.”
NHLRC1 is the gene's official symbol. The NHLRC1 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 NHLRC1 gene?
The NHLRC1 gene provides instructions for making a protein called malin. Although this protein is active in cells throughout the body, it appears to play a critical role in the survival of nerve cells (neurons) in the brain.
Malin is part of the cell machinery that breaks down (degrades) unwanted proteins within cells. The protein tags damaged and excess proteins with a molecule called ubiquitin, which serves as a signal to degrade these proteins. This process, which is known as the ubiquitin-proteasome system, acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. Malin belongs to a group of proteins in the ubiquitin-proteasome system called E3 protein-ubiquitin ligases.
Malin targets several proteins for degradation, including laforin (which is produced from the EPM2A gene). The interaction between malin and laforin likely plays a critical role in regulating the production of a complex sugar called glycogen. Glycogen is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Researchers believe that malin and laforin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system.
How are changes in the NHLRC1 gene related to health conditions?
Where is the NHLRC1 gene located?
Cytogenetic Location: 6p22.3
Molecular Location on chromosome 6: base pairs 18,120,486 to 18,122,619
The NHLRC1 gene is located on the short (p) arm of chromosome 6 at position 22.3.
More precisely, the NHLRC1 gene is located from base pair 18,120,486 to base pair 18,122,619 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NHLRC1?
You and your healthcare professional may find the following resources about NHLRC1 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 NHLRC1 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 NHLRC1?
acids ; alanine ; amino acid ; cell ; cell division ; degradation ; degrade ; enzyme ; epilepsy ; gene ; glycine ; glycogen ; ligase ; molecule ; mutation ; myoclonus ; myoclonus epilepsy ; nervous system ; neurological ; proline ; proteasome ; protein ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.