1mj4

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===Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase===
===Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase===
{{ABSTRACT_PUBMED_12832761}}
{{ABSTRACT_PUBMED_12832761}}
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==Disease==
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[[http://www.uniprot.org/uniprot/SUOX_HUMAN SUOX_HUMAN]] Defects in SUOX are the cause of isolated sulfite oxidase deficiency (ISOD) [MIM:[http://omim.org/entry/272300 272300]]; also known as sulfocysteinuria. ISOD is characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.<ref>PMID:9428520</ref><ref>PMID:9600976</ref><ref>PMID:10519592</ref><ref>PMID:12112661</ref><ref>PMID:12368985</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:012832761</ref><ref group="xtra">PMID:012207032</ref><references group="xtra"/>
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<ref group="xtra">PMID:012832761</ref><ref group="xtra">PMID:012207032</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Sulfite oxidase]]
[[Category: Sulfite oxidase]]

Revision as of 06:52, 25 March 2013

Template:STRUCTURE 1mj4

Contents

Crystal Structure Analysis of the cytochrome b5 domain of human sulfite oxidase

Template:ABSTRACT PUBMED 12832761

Disease

[SUOX_HUMAN] Defects in SUOX are the cause of isolated sulfite oxidase deficiency (ISOD) [MIM:272300]; also known as sulfocysteinuria. ISOD is characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.[1][2][3][4][5]

About this Structure

1mj4 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Rudolph MJ, Johnson JL, Rajagopalan KV, Kisker C. The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain. Acta Crystallogr D Biol Crystallogr. 2003 Jul;59(Pt 7):1183-91. Epub 2003, Jun 27. PMID:12832761
  • Paavilainen VO, Merckel MC, Falck S, Ojala PJ, Pohl E, Wilmanns M, Lappalainen P. Structural conservation between the actin monomer-binding sites of twinfilin and actin-depolymerizing factor (ADF)/cofilin. J Biol Chem. 2002 Nov 8;277(45):43089-95. Epub 2002 Aug 30. PMID:12207032 doi:10.1074/jbc.M208225200
  1. ↑ Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, Rajagopalan KV, Enemark JH, Rees DC. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell. 1997 Dec 26;91(7):973-83. PMID:9428520
  2. ↑ Garrett RM, Johnson JL, Graf TN, Feigenbaum A, Rajagopalan KV. Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6394-8. PMID:9600976
  3. ↑ Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology. 1999 Oct;106(10):1957-61. PMID:10519592 doi:S0161-6420(99)90408-6
  4. ↑ Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, Kisker C, Rajagopalan KV. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat. 2002 Jul;20(1):74. PMID:12112661 doi:10.1002/humu.9038
  5. ↑ Lee HF, Mak BS, Chi CS, Tsai CR, Chen CH, Shu SG. A novel mutation in neonatal isolated sulphite oxidase deficiency. Neuropediatrics. 2002 Aug;33(4):174-9. PMID:12368985 doi:10.1055/s-2002-34491

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