Genetic Polymorphisms in the Human 3'-phosphoadenosine 5'-phosphosulfate Synthetase 2 (PAPSS2) Gene

Reference #:

2000-100

Inventors/Contributors

Richard M. Weinshilboum, M.D., Eric D. Wieben, Ph.D., Robert R. Freimuth, Bruce W. Eckloff, Zhen-Hua Xu, M.D., Ph.D.

Description

PAPSS2 is an enzyme that synthesizes PAPS; the high-energy sulfate donor molecule involved in the sulfate conjugation (metabolism) of thousands of drugs, hormones (estrogen), neurotransmitters (dopamine) and many other macromolecules. Rare inactivating mutations in orthologous PAPSS2 genes have been identified as the genetic causes for human spondyloepimetaphyseal dysplasia and murine brachymorphism. Therefore, the repeats, deletions and four non-synonymous cSNPs that alter enzyme function (one cSNP that produces an enzyme variant that is 63% less active in 1.7% of the population) identified at Mayo might prove of value diagnostically both for pharmacogenetic variation in drug metabolism as well as disease pathophysiology such as arthritis.

Patent Status

	U.S. Patent Number 7,186,551 Issued March 06, 2007