In humans, a mutation in 3′-phosphoadenosine 5′-phosphosulfate synthase 1 (PAPSS1; a bi-functional enzyme with both ATP sulfurylase and adenosine 5′-phosphosulfate kinase activity), which introduces a premature stop codon and disrupts GAG sulfation, as well as other mutations that lead to disruption in sulfation patterns, have been shown to result in osteochondrodysplasias (disorders in the development of cartilage/bone) [342]. The gene discussed is PAPSS2; the disease is osteochondrodysplasia.