ⓘ PAPSS2

                                     

ⓘ PAPSS2

Bifunctional 3-phosphoadenosine 5-phosphosulfate synthetase 2 is an enzyme that in humans is encoded by the PAPSS2 gene.

Sulfation is a common modification of endogenous and exogenous xenobiotics, compounds and drugs. In mammals, the sulfate source is 3-phosphoadenosine 5-phosphosulfate paps, created from ATP and inorganic sulfate. Two different isoforms of tissues, encoded by different genes of the synthesis of HDL. This gene encodes one of the two paps synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternative spliced transcript variants encoding different isoforms have been described for this gene.

                                     
  • type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 also known as ATPSK 2 The condition is rare. This condition is a skeletal dysplasia
  • by bifunctional 3 - phosphoadenosine 5 - phosphosulfate synthases PAPSS 1 and PAPSS2 using ATP as the phosphate donor. APS and PAPS are intermediates
  • Identification of sequence polymorphisms in two sulfation - related genes, PAPSS2 and SLC26A 2 and an association analysis with knee osteoarthritis Journal of
  • congenita 183900 COL 2 A1 Segawa syndrome, recessive 605407 TH Self - healing collodion baby 242300 TGM1 SEMD, Pakistani type 612847 PAPSS2 Senior Loken syndrome
  • Q9BWT3 11691 PAPPA HGNC: 8602 Q13219 11692 PAPPA 2 HGNC: 14615 Q9BXP8 11693 PAPSS 1 HGNC: 8603 O43252 11694 PAPSS2 HGNC: 8604 O95340 11695 PAQR3 HGNC: 30130 Q6TCH7