3e04

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[[Image:3e04.png|left|200px]]
 
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{{STRUCTURE_3e04| PDB=3e04 | SCENE= }}
{{STRUCTURE_3e04| PDB=3e04 | SCENE= }}
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===Crystal structure of human fumarate hydratase===
===Crystal structure of human fumarate hydratase===
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==Disease==
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[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:[http://omim.org/entry/606812 606812]]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:]<ref>PMID:9635293</ref> Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:[http://omim.org/entry/150800 150800]]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.<ref>PMID:11865300</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/FUMH_HUMAN FUMH_HUMAN]] Also acts as a tumor suppressor.
==About this Structure==
==About this Structure==
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==See Also==
==See Also==
*[[Fumarase|Fumarase]]
*[[Fumarase|Fumarase]]
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==Reference==
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<references group="xtra"/><references/>
[[Category: Fumarate hydratase]]
[[Category: Fumarate hydratase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 12:10, 24 March 2013

Template:STRUCTURE 3e04

Contents

Crystal structure of human fumarate hydratase

Disease

[FUMH_HUMAN] Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812]; also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.[:][1] Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.[2]

Function

[FUMH_HUMAN] Also acts as a tumor suppressor.

About this Structure

3e04 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  1. ↑ Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998 Apr;63(4):254-62. PMID:9635293 doi:S1096-7192(98)92684-1
  2. ↑ Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002 Apr;30(4):406-10. Epub 2002 Feb 25. PMID:11865300 doi:10.1038/ng849

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