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Details on Person In the second step of PAPS biosynthesis, adenylyl sulfate (A...
| Class:Id | Summation:176543 |
|---|---|
| _displayName | In the second step of PAPS biosynthesis, adenylyl sulfate (A... |
| _timestamp | 2014-07-10 08:48:31 |
| created | [InstanceEdit:176534] D'Eustachio, P, 2006-03-08 20:43:01 |
| modified | [InstanceEdit:3465612] Jassal, Bijay, 2013-05-17 [InstanceEdit:3621807] Jassal, B, 2013-05-24 [InstanceEdit:5607074] Jassal, Bijay, 2014-07-10 |
| text | In the second step of PAPS biosynthesis, adenylyl sulfate (APS) is phosphorylated to 3'-phosphoadenylyl sulfate (PAPS), catalyzed by the APS kinase domains of the bifunctional enzymes PAPS synthases 1 and 2 (PAPSS1 and 2). PAPSS2 is essential for the sulfation of glycosaminoglycan chains of proteoglycans, a necessary post-translational modification. Defective PAPSS2 results in undersulfation of proteoglycans which causes spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA; MIM:612847), a bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Mutations resulting in SEMD-PA include S438*, T48R and R329* (Ahmad et al. 1998, ul Haque et al. 1998, Noordam et al. 2009). |
| (summation) | [Reaction:174389] PAPSS1,2 transfer PO4(2-) group from ATP to APS to form PAPS [Homo sapiens] [FailedReaction:3560785] Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS [Homo sapiens] |
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