3e04: Difference between revisions
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{{STRUCTURE_3e04| PDB=3e04 | SCENE= }} | {{STRUCTURE_3e04| PDB=3e04 | SCENE= }} | ||
===Crystal structure of human fumarate hydratase=== | |||
=== | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Fumarate hydratase]] | [[Category: Fumarate hydratase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
