PAPSS23-Prime-Phosphoadenosine 5-Prime-Phosphosulfate Synthase 2
PAPSS23-Prime-@phosphoadenosine 5-Prime-Phosphosulfate Synthase 2
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A growing number of studies report patients with various mutations in the PAPSS2 gene with clinical phenotypes ranging from bone and cartilage mal-formations to severely disturbed androgen metabolism.
PAPSS2 is a bifunctional enzyme that activates cytoplasmic S[O.
Diagnosis: PAPSS2 activity can be measured in human liver biopsy samples (128).