Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Sulfotransferase 1A1 (SULT1A1) [T88.7]

OMIM number: 171150 (SULT1A1)

Dipl.-Biol. Birgit Busse

Scientific Background

As phase II enzymes, cytosolic sulfotransferases catalyze the transfer of sulfonate groups onto endogenous (e.g. steroids, catecholamines) and exogenous substrates as well as xenobiotics. Depending on the substrates, these can be toxification or detoxification processes. The sulfotransferase 1A1 (SULT1A1) belongs to the phenolic sulfotransferases and is involved in the detoxification of various substance groups. By sulfation of the substrate, water solubility is increased and thus excretion accelerated. A polymorphism in exon 7 (SULT1A1*2, p.R213H) causes reduction in activity and stability of the enzyme. This in turn leads to a slower substrate conversion and to accumulation of toxic substances.