4mjo
From Proteopedia
(Difference between revisions)
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- | + | {{STRUCTURE_4mjo| PDB=4mjo | SCENE= }} | |
+ | ===Human liver fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate, 1-phosphohydrolase) (e.c.3.1.3.11) complexed with the allosteric inhibitor 3=== | ||
+ | {{ABSTRACT_PUBMED_24128068}} | ||
- | + | ==Disease== | |
+ | [[http://www.uniprot.org/uniprot/F16P1_HUMAN F16P1_HUMAN]] Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:[http://omim.org/entry/229700 229700]]. FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.<ref>PMID:9382095</ref> <ref>PMID:12126934</ref> | ||
- | + | ==About this Structure== | |
+ | [[4mjo]] is a 8 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4MJO OCA]. | ||
- | + | ==Reference== | |
+ | <ref group="xtra">PMID:024128068</ref><references group="xtra"/><references/> | ||
+ | [[Category: Fructose-bisphosphatase]] | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Benz, J.]] | ||
+ | [[Category: Joseph, C.]] | ||
+ | [[Category: Ruf, A.]] | ||
+ | [[Category: Tetaz, T.]] | ||
+ | [[Category: Allostery]] | ||
+ | [[Category: Hydrolase-hydrolase inhibitor complex]] |
Revision as of 07:54, 6 November 2013
Contents |
Human liver fructose-1,6-bisphosphatase(d-fructose-1,6-bisphosphate, 1-phosphohydrolase) (e.c.3.1.3.11) complexed with the allosteric inhibitor 3
Template:ABSTRACT PUBMED 24128068
Disease
[F16P1_HUMAN] Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]. FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.[1] [2]
About this Structure
4mjo is a 8 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Cubrilovic D, Haap W, Barylyuk K, Ruf A, Badertscher M, Gubler M, Tetaz T, Joseph C, Benz J, Zenobi R. Determination of Protein-Ligand Binding Constants of a Cooperatively Regulated Tetrameric Enzyme Using Electrospray Mass Spectrometry. ACS Chem Biol. 2013 Oct 15. PMID:24128068 doi:http://dx.doi.org/10.1021/cb4007002
- ↑ Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. Am J Hum Genet. 1997 Oct;61(4):852-61. PMID:9382095
- ↑ Matsuura T, Chinen Y, Arashiro R, Katsuren K, Tamura T, Hyakuna N, Ohta T. Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Mol Genet Metab. 2002 Jul;76(3):207-10. PMID:12126934