Endocrine Abstracts

PAPS (3′-phospho-adenosine-5′-phosphosulfate) synthases provide the cofactor PAPS for all human sulfation pathways. The cytoplasmic sulfotransferase SULT2A1 uses PAPS mainly to sulfate the androgen precursor DHEA (dehydroepiandrosterone). Apparent SULT2A1 deficiency is caused by mutations in the gene coding for PAPSS2; suggesting some form of PAPS synthase-sulfotransferase pairing. Knockdown studies within human adrenocortical NCI-295R ce...

PAPS (3′-phospho-adenosine-5′-phosphosulfate) synthases provide the cofactor PAPS for all human sulfation pathways. The cytoplasmic sulfotransferase SULT2A1 uses PAPS mainly to sulfate the androgen precursor DHEA (dehydroepiandrosterone). Apparent SULT2A1 deficiency is caused by mutations in the gene coding for PAPSS2; suggesting some form of PAPS synthase-sulfotransferase pairing. Knockdown studies within human adrenocortical NCI-295R ce...

Mutations in the gene for 3′-phospho-adenosine-5′-phosphosulfate synthase 2 (PAPSS2) are linked to bone and cartilage mal-formation. More recently, we could identify PAPSS2-mutations as mono-genetic cause for androgen excess in women due to apparent SULT2A1 deficiency, the enzyme responsible for sulfation of the testosterone precursor DHEA that relies on PAPS provision by PAPS synthases. The only human orthologue, PAPSS1, is expressed in the affected tissu...