2oat: Difference between revisions
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{{STRUCTURE_2oat| PDB=2oat | SCENE= }} | {{STRUCTURE_2oat| PDB=2oat | SCENE= }} | ||
===ORNITHINE AMINOTRANSFERASE COMPLEXED WITH 5-FLUOROMETHYLORNITHINE=== | ===ORNITHINE AMINOTRANSFERASE COMPLEXED WITH 5-FLUOROMETHYLORNITHINE=== | ||
{{ABSTRACT_PUBMED_9878407}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/OAT_HUMAN OAT_HUMAN]] Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:[http://omim.org/entry/258870 258870]]. HOGA is a slowly progressive blinding autosomal recessive disorder.<ref>PMID:3375240</ref><ref>PMID:2793865</ref><ref>PMID:1612597</ref><ref>PMID:1737786</ref><ref>PMID:7887415</ref><ref>PMID:7668253</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009878407</ref><references group="xtra"/> | <ref group="xtra">PMID:009878407</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ornithine aminotransferase]] | [[Category: Ornithine aminotransferase]] | ||
Revision as of 12:11, 24 March 2013
ORNITHINE AMINOTRANSFERASE COMPLEXED WITH 5-FLUOROMETHYLORNITHINE
Template:ABSTRACT PUBMED 9878407
Disease
[OAT_HUMAN] Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]. HOGA is a slowly progressive blinding autosomal recessive disorder.[1][2][3][4][5][6]
About this Structure
2oat is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Storici P, Capitani G, Muller R, Schirmer T, Jansonius JN. Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. J Mol Biol. 1999 Jan 8;285(1):297-309. PMID:9878407 doi:10.1006/jmbi.1998.2289
- ↑ Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3777-80. PMID:3375240
- ↑ Inana G, Chambers C, Hotta Y, Inouye L, Filpula D, Pulford S, Shiono T. Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. J Biol Chem. 1989 Oct 15;264(29):17432-6. PMID:2793865
- ↑ Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. Genomics. 1992 Jun;13(2):389-94. PMID:1612597
- ↑ Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem. 1992 Feb 15;267(5):3302-7. PMID:1737786
- ↑ Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. Am J Hum Genet. 1995 Mar;56(3):616-22. PMID:7887415
- ↑ Kobayashi T, Ogawa H, Kasahara M, Shiozawa Z, Matsuzawa T. A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. Am J Hum Genet. 1995 Aug;57(2):284-91. PMID:7668253
