SKIV2L

Ski2 like RNA helicase

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, which is the short (p) arm of chromosome 6 at position 21

Molecular Location: base pairs 31,958,804 to 31,969,852 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21, which is the short (p) arm of chromosome 6 at position 21
  • 170A
  • DDX13
  • helicase-like protein
  • helicase SKI2W
  • HLP
  • SKI2
  • SKI2 homolog, superkiller viralicidic activity 2-like
  • SKI2W
  • SKIV2
  • SKIV2L1
  • superkiller viralicidic activity 2-like (S. cerevisiae)
  • THES2