WARF: P02284US

Common Variants of the Sodium Channel Alpha Subunits


Jonathan Makielski, Bin Ye, Michael Ackerman

The Wisconsin Alumni Research Foundation (WARF) is seeking commercial partners interested in developing four groups of SCN5A variants that represent the most common SCN5A variants in humans.
OVERVIEWThe SCN5A gene encodes a human cardiac sodium (Na+) channel alpha subunit that carries the inward Na+ current in the heart. Three distinct polymorphic SCN5A clones, hH1, hH1a and hH1b, have been isolated from human cardiac cDNA libraries.
THE INVENTIONUW-Madison researchers have identified four groups of SCN5A variants that represent the most common SCN5A variants in humans. The researchers found that none of the three previously known SCN5A clones represented a common sequence for SCN5A. The new SCN5A variants, on the other hand, have been observed in hundreds of individuals. Thus, they provide the true reference or background sequences for evaluating the normal functions of the sodium channel. They are also the true reference sequences against which the effects of various SCN5A mutations should be judged.

The researchers have put the four full constructs into appropriate expression vectors. They also have created mammalian cell lines that stably express each of the channels.
  • Provides new tools to study SCN5A mutations
  • Useful to identify new diagnostic and treatment strategies for sodium channel-related diseases
  • May be useful for screening agents that modulate sodium channel activities
  • These SCN5A sequences are common in the human population.
  • Information on the SCN5A background of an individual patient may be important for diagnostic and therapeutic purposes.
  • Provides a relevant SCN5A background for the study and testing of disease-causing mutations
  • Provides a relevant SCN5A background for use in drug screening
  • Recombinant DNA techniques can be used to make any desired change in the channel.
  • Cell lines allow direct study of the channel protein without the trouble and expense of transient transfections.
For More Information About the Inventors
Contact Information
For current licensing status, please contact Jennifer Gottwald at or 608-960-9854.
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