Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Definition:
References:
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[1]. Cees Noordam, et al. Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med. 2009 May 28;360(22):2310-8. [Content Brief]
[2]. M Faiyaz ul Haque, et al. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet. 1998 Oct;20(2):157-62. [Content Brief]
[3]. Aritoshi Iida, et al. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. Hum Mutat. 2013 Oct;34(10):1381-6. [Content Brief]
[4]. Wilma Oostdijk, et al. PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. J Clin Endocrinol Metab. 2015 Apr;100(4):E672-80. [Content Brief]
[5]. Zhen-Hua Xu, et al. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. Pharmacogenetics. 2002 Jan;12(1):11-21. [Content Brief]
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