5d6b | pdb_00005d6b
Human fumarase (wild type)
Structural highlights
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. Publication Abstract from PubMedHuman fumarase (HsFH) is a well-known citric acid cycle enzyme and is therefore a key component in energy metabolism. Genetic studies on human patients have shown that polymorphisms in the fumarase gene are responsible for diseases such as hereditary leiomyomatosis and renal cell cancer. As a first step in unravelling the molecular basis of the mechanism of fumarase deficiency in genetic disorders, the HsFH gene was cloned in pET-28a, heterologously expressed in Escherichia coli, purified by nickel-affinity chromatography and crystallized using the vapour-diffusion technique. X-ray diffraction experiments were performed at a synchrotron source and the structure was solved at 2.1 A resolution by molecular replacement. Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.,Pereira de Padua RA, Nonato MC Acta Crystallogr F Struct Biol Commun. 2014 Jan;70(Pt 1):120-2. doi:, 10.1107/S2053230X13033955. Epub 2013 Dec 24. PMID:24419633[3] From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine. References
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