Disease-gene associations mined from literature

Literature associating PAPSS2 and spondyloepiphyseal dysplasia with congenital joint dislocations

PAPSS2 [ENSP00000406157]

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; 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).

Synonyms:  PAPSS2,  PAPSS2p,  hPAPSS2,  O95340,  Q5TB52 ...

Linkouts:  STRING  Pharos  UniProt  OMIM