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The official name of this gene is “superkiller viralicidic activity 2-like (S. cerevisiae).”
SKIV2L is the gene's official symbol. The SKIV2L gene is also known by other names, listed below.
The SKIV2L gene provides instructions for making a protein whose function has not been confirmed. Based on its similarity to a protein in other organisms, researchers speculate that the SKIV2L protein acts as part of a group of proteins called the SKI complex. This complex is thought to be necessary for the function of another large protein complex known as the cytosolic exosome. Within cells, the cytosolic exosome helps to recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that the cytosolic exosome's role in getting rid of excess and abnormal mRNA is important for cell growth.
At least nine mutations in the SKIV2L gene have been found to cause trichohepatoenteric syndrome, a rare condition that affects many parts of the body. Its major signs and symptoms include chronic diarrhea starting in infancy, hair abnormalities, distinctive facial features, and liver disease. Mutations in this gene likely eliminate the function of the SKIV2L protein. Researchers hypothesize that a loss of this protein's function impairs the activity of the SKI complex and the cytosolic exosome. However, it is unknown how these changes could lead to chronic diarrhea and the other features of trichohepatoenteric syndrome.
Cytogenetic Location: 6p21
Molecular Location on chromosome 6: base pairs 31,958,803 to 31,969,754
The SKIV2L gene is located on the short (p) arm of chromosome 6 at position 21.
More precisely, the SKIV2L gene is located from base pair 31,958,803 to base pair 31,969,754 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SKIV2L helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; chronic ; DNA ; gene ; helicase ; messenger RNA ; mRNA ; protein ; RNA ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.