1p49

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Template:STRUCTURE 1p49

Contents

Structure of Human Placental Estrone/DHEA Sulfatase

Template:ABSTRACT PUBMED 12657638

Disease

[STS_HUMAN] Defects in STS are the cause of ichthyosis X-linked (IXL) [MIM:308100]. Ichthyosis X-linked is a keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.[1][2][3][4]

Function

[STS_HUMAN] Conversion of sulfated steroid precursors to estrogens during pregnancy.

About this Structure

1p49 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Hernandez-Guzman FG, Higashiyama T, Pangborn W, Osawa Y, Ghosh D. Structure of human estrone sulfatase suggests functional roles of membrane association. J Biol Chem. 2003 Jun 20;278(25):22989-97. Epub 2003 Mar 25. PMID:12657638 doi:10.1074/jbc.M211497200
  1. ↑ Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet. 1992 Mar;50(3):483-91. PMID:1539590
  2. ↑ Alperin ES, Shapiro LJ. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem. 1997 Aug 15;272(33):20756-63. PMID:9252398
  3. ↑ Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. Hum Mutat. 2000 Mar;15(3):296. PMID:10679952 doi:<296::AID-HUMU17>3.0.CO;2-# 10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU17>3.0.CO;2-#
  4. ↑ Oyama N, Satoh M, Iwatsuki K, Kaneko F. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. J Invest Dermatol. 2000 Jun;114(6):1195-9. PMID:10844566 doi:jid004

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