Aliases for PAPSS2 Gene
External Ids for PAPSS2 Gene
Previous GeneCards Identifiers for PAPSS2 Gene
Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for PAPSS2 Gene
PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2) is a Protein Coding gene. Diseases associated with PAPSS2 include spondyloepiphyseal dysplasia tarda toledo type and brachyolmia 4 with mild epiphyseal and metaphyseal changes. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include nucleotidyltransferase activity and sulfate adenylyltransferase (ATP) activity. An important paralog of this gene is PAPSS1.
UniProtKB/Swiss-Prot for PAPSS2 Gene
Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have a important role in skeletogenesis during postnatal growth (By similarity).