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Protein Coding Gene : Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Primary Identifier  MGI:1330223 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  23972
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables adenylylsulfate kinase activity and sulfate adenylyltransferase (ATP) activity. Involved in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process. Acts upstream of or within blood coagulation; bone development; and sulfate assimilation. Predicted to be active in cytosol. Is expressed in several structures, including genitourinary system; heart; limb; sensory organ; and skeleton. Used to study spondyloepimetaphyseal dysplasia, Pakistani type. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Pakistani type. Orthologous to human PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2).
PHENOTYPE: Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. [provided by MGI curators]
  • synonyms:
  • Papss2,
  • 1810018P12Rik,
  • RIKEN cDNA 1810018P12 gene,
  • bm,
  • MGI:1921420,
  • Sk2,
  • AI159688,
  • MGI:2147481,
  • Atpsk2,
  • MGD-MRK-1582,
  • 3'-phosphoadenosine 5'-phosphosulfate synthase 2,
  • MGI:88171,
  • brachymorphic,
  • expressed sequence AI159688
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