DISEASES

Disease-gene associations mined from literature

Literature associating PAPSS1 and spondyloepimetaphyseal dysplasia

PAPSS1 [ENSP00000265174]

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; 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. Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells.

Synonyms:  PAPSS1,  PAPSS1p,  hPAPSS1,  O43252,  Q4W5F0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM