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Reference #:
2000-031
Inventors/Contributors
Richard M. Weinshilboum, M.D., Bruce W. Eckloff, Robert R. Freimuth, Eric D. Wieben, Ph.D., Thomas C. Wood
Description
Human SULT1C1 has been shown to metabolically activate planar phenols and the chemical procarcinogen N-OH-2-acetylaminoflurorene. Therefore, genetically based variations in the activity of this enzyme may affect the activation of procarcinogens. In addition, SULT1C1 polymorphisms may play a role in thyroid hormone inactivation since this enzyme metabolizes thyroid hormones. Therefore, variations in SULT1C1 activity may affect the balance of thyroid hormone effect in vivo. May be useful in determining that an individual is predisposed to cancer and thyroid diseases. Multiple non-synonymous cSNPs identified that result in significantly reduced enzyme activity.
Patent Status
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